Causes of deafblindness may be the result of hereditary or chromosomal syndromes disorders, pre-natal/congenital complications, post-natal/non-congenital complications or complications of prematurity. (National Center on Deaf-Blindness) For some children, deafblindness is present at birth; for others, vision or hearing loss occurs over time. The following listing, based upon the causes of deafblindness provides a definition of the syndromes or cause and includes resources that provide more detailed information related to the syndrome or cause.

Hereditary/Chromosomal Syndromes and Disorders

Aicardi Syndrome

People with Aicardi syndrome have absent or underdeveloped tissue connecting the left and right halves of the brain They have seizures beginning in infancy (infantile spasms), which tend to progress to recurrent seizures (epilepsy) that can be difficult to treat. (Medline Plus 2020)

Aicardi Syndrome Foundationhttps://aicardisyndromefoundation.org/
MedlinePlushttps://medlineplus.gov/genetics/condition/aicardi-syndrome/
National Institute of Neurological Disorders and Strokehttps://www.ninds.nih.gov/Disorders/All-Disorders/Aicardi-Syndrome-Information-Page
National Organization for Rare Disordershttps://rarediseases.org/rare-diseases/aicardi-syndrome/

Alport Syndrome

Alport syndrome is a rare genetic disorder characterized by progressive kidney disease and abnormalities of the inner ear and the eye. There are three genetic types. X-linked Alport syndrome (XLAS) is the most common; in these families affected males typically have more severe disease than affected females. (National Organization for Rare Diseases 2020)
MedlinePlus https://medlineplus.gov/genetics/condition/alport-syndrome/
National Kidney Foundation https://www.kidney.org/atoz/content/alport
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/alport-syndrome/

Alstrom Syndrome

Alström syndrome is characterized by a progressive loss of vision and hearing, a form of heart disease that enlarges and weakens the heart muscle (dilated cardiomyopathy), obesity, type 2 diabetes (the most common form of diabetes), and short stature. (Medline Plus 2020)
Alstrom Syndrome International https://www.alstrom.org/
MedlinePlus https://medlineplus.gov/genetics/condition/alstrom-syndrome/
National Organization for Rare Disorders https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome

Bardet-Biedl Syndrome (Laurence Moon-Biedl)

Bardet Biedl Syndrome is a rare genetic disorder with highly variable symptoms which may include retinal degeneration, obesity, reduced kidney function, polydactyly (extra digits of the hands or feet) among many other features. (Bardet Biedl Syndrome Foundation 2021)
Bardet-Biedl Syndrome Foundation https://www.bardetbiedl.org/what-is-bbs
MedlinePlus https://medlineplus.gov/genetics/condition/bardet-biedl-syndrome/
National Organization of Rare Disorders https://rarediseases.org/rare-diseases/bardet-biedl-syndrome/

Batten Disease

Batten disease, also known as neuronal ceroid lipofuscinosis, refers to a group of rare inherited neurological conditions that can cause vision loss, progressive motor and cognitive decline, and seizures. (Batten Disease News 2021)
Batten Disease News https://battendiseasenews.com/
Batten Disease Support and Research Association https://www.bdsra.org/
Beyond Batten Disease Foundation https://beyondbatten.org/
National Institute of Neurological and Diseases and Stroke https://www.ninds.nih.gov/disorders/patient-caregiver-education/fact-sheets/batten-disease-fact-sheet

CHARGE Syndrome

CHARGE syndrome is a disorder that affects many areas of the body. CHARGE is an abbreviation for several of the features common in the disorder: coloboma, heart defects, atresia choanae (also known as choanal atresia), growth retardation, genital abnormalities, and ear abnormalities. (MedlinePlus 2020)

Cincinnati Children’s Hospitalhttps://www.cincinnatichildrens.org/health/c/charge-syndrome
CHARGE Syndrome Foundationhttps://www.chargesyndrome.org/about-charge/overview/
MedlinePlushttps://medlineplus.gov/genetics/condition/charge-syndrome/
National Organization of Rare Disordershttps://rarediseases.org/rare-diseases/charge-syndrome/
Ohio Center for Deafblind Educationhttps://ohiodeafblind.com/images/pdfs/Final_factsheetslilyrevised7.29.19.pdf

Chromosome 18, ring 18

Chromosome 18 Ring is a rare disorder in which there is loss (deletion) of genetic material from one or both ends of the 18th chromosome and joining of the chromosomal ends to form a ring. Associated symptoms and findings may vary greatly in range and severity from case to case, depending upon the amount and location of lost genetic material and other factors. (National Organization for Rare Diseases 2009)
MedlinePlus https://medlineplus.gov/genetics/chromosome/18/#conditions
National Organization of Rare Disorders https://rarediseases.org/rare-diseases/chromosome-18-ring/

Cockayne Syndrome

Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development. (MedlinePlus 2020)

MedlinePlushttps://medlineplus.gov/genetics/condition/cockayne-syndrome/
National Organization of Rare Disordershttps://rarediseases.org/rare-diseases/cockayne-syndrome/

Cogan Syndrome

Cogan syndrome is a rare autoimmune disease involving the eye and the inner ear. Cogan syndrome affects young adults, with 80% of patients between 14 and 47 years. The disease appears to result from an autoimmune reaction directed against an unknown common autoantigen in the cornea and inner ear. (Merck Manual Professional Version 2020)

Merck Manuals Professional Versionhttps://www.merckmanuals.com/professional/eye-disorders/corneal-disorders/cogan-syndrome
National Center for Advancing Translational Scienceshttps://rarediseases.info.nih.gov/diseases/1421/cogans-syndrome
Vasculitis Foundationhttps://www.vasculitisfoundation.org/education/forms/cogans-syndrome/

Cornelia De Lange

Cornelia de Lange syndrome is characterized by slow growth before and after birth leading to short stature; intellectual disability that is usually moderate to severe; and abnormalities of bones in the arms, hands, and fingers. (MedlinePlus 2020)

CdLS Foundationhttps://www.cdlsusa.org/
MedlinePlushttps://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/
National Organization for Rare Disordershttps://rarediseases.org/rare-diseases/cornelia-de-lange-syndrome/

Cri-du-cat Syndrome (Chromosome 5p-synd)

Cri-du-chat (cat’s cry) syndrome, also known as 5p- (5p minus) syndrome, is a chromosomal condition that results when a piece of chromosome 5 is missing. Infants with this condition often have a high-pitched cry that sounds like that of a cat.  (MedlinePlus 2020)

MedlinePlushttps://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/
National Human Genome Research Institutehttps://www.genome.gov/Genetic-Disorders/Cri-du-Chat
National Organization for Rare Disordershttps://rarediseases.org/rare-diseases/cri-du-chat-syndrome/

Crigler-Najjar Syndrome

Crigler-Najjar syndrome is a severe condition characterized by high levels of a toxic substance called bilirubin in the blood (hyperbilirubinemia). (MedlinePlus 2020)

Children’s Hospital of Pittsburghhttps://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/crigler-najjar-syndrome
MedlinePlushttps://medlineplus.gov/genetics/condition/crigler-najjar-syndrome/
National Organization for Rare Diseaseshttps://rarediseases.org/rare-diseases/crigler-najjar-syndrome/

Crouzon Syndrome (Craniofacial Dysotosis)

Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face. (MedlinePlus 2020)
Boston Children’s Hospital https://www.childrenshospital.org/conditions/crouzon-syndrome
Children’s Hospital of Philadelphia https://www.chop.edu/conditions-diseases/crouzon-syndrome
MedlinePlus https://medlineplus.gov/genetics/condition/crouzon-syndrome/

Dandy Walker Syndrome

Dandy-Walker malformation affects brain development, primarily development of the cerebellum, which is the part of the brain that coordinates movement. In individuals with this condition, various parts of the cerebellum develop abnormally, resulting in malformations that can be observed with medical imaging. (MedlinePlus 2020)

Children’s National Hospitalhttps://childrensnational.org/visit/conditions-and-treatments/prenatal-care-pregnancy/dandy-walker-malformation
MedlinePlushttps://medlineplus.gov/genetics/condition/dandy-walker-malformation/
National Organization for Rare Diseaseshttps://rarediseases.org/rare-diseases/dandy-walker-malformation/

Down Syndrome (Trisomy 21 Syndrome)

Down syndrome is a genetic disorder. It is also called trisomy 21. It includes certain birth defects, learning problems, and facial features. A child with Down syndrome also may have heart defects and problems with vision and hearing. How severe or mild these problems are vary from child to child.  (Stanford Children’s Health 2021)
Centers for Disease Control and Prevention https://www.cdc.gov/ncbddd/birthdefects/downsyndrome.html
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/down-syndrome/symptoms-causes/syc-20355977
Stanford Children’s Health Lucille Packard Children’s Hospital https://www.stanfordchildrens.org/en/topic/default?id=down-syndrome-trisomy-21-90-P02356

Golenhar Syndrome

Goldenhar syndrome is a rare congenital condition characterized by abnormal development of the eye, ear and spine. It is also known as oculo-auriculo-vertebral spectrum or OAV. (Children’s Hospital of Philadelphia, 2021)
Children’s Hospital of Philadelphia https://www.chop.edu/conditions-diseases/goldenhar-syndrome
Dayton Children’s Hospital https://www.childrensdayton.org/patients-visitors/services/craniofacial-center/craniofacial-treatment-and-services/goldenhar

Hallgren Syndrome**

Usher syndrome, also known as Hallgren syndrome, Usher–Hallgren syndrome, retinitis pigmentosa–dysacusis syndrome, or dystrophia retinae dysacusis syndrome, is a rare genetic disorder caused by a mutation in any one of at least 11 genes resulting in a combination of hearing loss and visual impairment. (Wikipedia 2021)

**See Usher Syndrome for additional information

Hand-Schuller-Christian (Histiocytosis X)

Histiocytosis, Hand-Schuller-Christian isa disease in which histiocytes start to multiply and attack the tissues or organs of the patient. The disease usually affects children age 2 to 5, less often older children and adults.Hand-Schuller-Christian disease is a form of Langerhans cell histiocytosis.(MedicineNet 2020)
MedicineNet https://www.medicinenet.com/histiocytosis_hand-schuller-christian/definition.htm
MedLinePlus https://medlineplus.gov/genetics/condition/langerhans-cell-histiocytosis/

Herpes-Zoster (or Hunt)

Ramsay Hunt syndrome (herpes zoster oticus) occurs when a shingles outbreak affects the facial nerve near one of your ears. In addition to the painful shingles rash, Ramsay Hunt syndrome can cause facial paralysis and hearing loss in the affected ear. (Mayo Clinic, 2021)
Healthline https://www.healthline.com/health/ramsay-hunt-syndrome
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/ramsay-hunt-syndrome/symptoms-causes/syc-20351783
Mount Sinai https://www.mountsinai.org/health-library/diseases-conditions/ramsay-hunt-syndrome

Hunter Syndrome (MPS II)

Hunter syndrome is a rare, inherited disorder in which the body does not properly digest (break down) sugar molecules in the body. When these molecules build up in organs and tissues over time, they can cause damage that affects physical and mental development and abilities. The disorder almost always occurs in boys. (Cleveland Clinic, 2019)
Boston Children’s Hospital https://www.childrenshospital.org/conditions/mps-ii-hunter-syndrome
Cleveland Clinic https://my.clevelandclinic.org/health/diseases/17932-hunter-syndrome
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/hunter-syndrome/symptoms-causes/syc-20350706

Hurler Syndrome

Hurler syndrome is the most severe form of mucopolysaccharidosis type 1 (MPS1; see this term), a rare lysosomal storage disease, characterized by skeletal abnormalities, cognitive impairment, heart disease, respiratory problems, enlarged liver and spleen, characteristic facies and reduced life expectancy. (National Center for Advancing Translational Sciences 2021)
Boston Children’s Hospital https://www.childrenshospital.org/conditions/mps-1-hurler-syndrome
Mount Sinai https://www.mountsinai.org/health-library/diseases-conditions/hurler-syndrome
National Center for Advancing Translational Sciences https://rarediseases.info.nih.gov/diseases/12559/hurler-syndrome

Kearns-Sayre Syndrome

Kearns-Sayre syndrome is a condition that affects many parts of the body, especially the eyes. The features of Kearns-Sayre syndrome usually appear before age 20, and the condition is diagnosed by a few characteristic signs and symptoms. (MedlinePlus 2020)
MedlinePlus https://medlineplus.gov/genetics/condition/kearns-sayre-syndrome/
National Institute of Neurological Disorders and Stroke https://www.ninds.nih.gov/Disorders/All-Disorders/Kearns-Sayre-Syndrome-Information-Page
National Organization for Rare Diseases https://rarediseases.org/rare-diseases/kearns-sayre-syndrome/

Klippel-Feil Sequence

Klippel-Feil sequence: Short neck, low hairline at the nape of the neck and limited movement of the head. Klippel-Feil sequence is due to a defect in the early development of the spinal column in the neck, resulting in fusion of the cervical vertebrae. (MedlinePlus 2021) Klippel-Feil syndrome is a rare bone disorder distinguished by the abnormal fusion of two or more bones in the neck. Children with the disorder may have a short, webbed neck, decreased range of motion in the head and neck area, and/or a low hairline at the back of the head. (Children’s Hospital of Philadelphia 2013)
Children’s Hospital of Philadelphia https://www.chop.edu/conditions-diseases/klippel-feil-syndrome
Medline Plus https://www.medicinenet.com/klippel-feil_sequence/definition.htm

Klippel-Trenaunay-Weber Syndrome

Klippel-Trenaunay-Weber syndrome is a condition that affects the development of blood vessels, soft tissues (such as skin and muscles), and bones. The disorder has three characteristic features: a red birthmark called a port-wine stain, abnormal overgrowth of soft tissues and bones, and vein malformations. (MedlinePlus 2021)
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/klippel-trenaunay/symptoms-causes/syc-20374152
MedlinePlus https://medlineplus.gov/genetics/condition/klippel-trenaunay-syndrome/
National Center for Advancing Translational Sciences https://rarediseases.info.nih.gov/diseases/3122/klippel-trenaunay-syndrome

Kniest Dysplasia

Kniest dysplasia is a disorder of bone growth characterized by short stature (dwarfism) with other skeletal abnormalities and problems with vision and hearing. People with Kniest dysplasia are born with a short trunk and shortened arms and legs. (MedlinePlus 2020)
Children’s Hospital of Philadelphia https://www.chop.edu/conditions-diseases/kniest-dysplasia
Johns Hopkins Medicine https://www.hopkinsmedicine.org/health/conditions-and-diseases/kneist-syndrome
MedlinePlus https://medlineplus.gov/genetics/condition/kniest-dysplasia/

Leber Congenital Amaurosis

Leber Congenital Amaurosis is an eye disorder that primarily affects the retina, which is the specialized tissue at the back of the eye that detects light and color. People with this disorder typically have severe visual impairment beginning in infancy. The visual impairment tends to be stable, although it may worsen very slowly over time. (MedlinePlus 2020)
American Society of Retina Specialist https://www.asrs.org/patients/retinal-diseases/37/leber-congenital-amaurosis-lca
Fighting Blindness Foundation https://www.fightingblindness.org/diseases/leber-congenital-amaurosis-lca
MedlinePlus https://medlineplus.gov/genetics/condition/leber-congenital-amaurosis/

Leigh Disease

Leigh syndrome is a severe neurological disorder that usually becomes apparent in the first year of life. This condition is characterized by progressive loss of mental and movement abilities (psychomotor regression) and typically results in death within two to three years, usually due to respiratory failure. (Medline Plus 2020)

Cleveland Clinichttps://my.clevelandclinic.org/health/articles/6037-leighs-disease
MedlinePlushttps://medlineplus.gov/genetics/condition/leigh-syndrome/
United Mitochondrial Disease Foundationhttps://www.umdf.org/leigh-syndrome/

Marfan Syndrome

Marfan syndrome is an inherited disorder that affects connective tissue — the fibers that support and anchor your organs and other structures in your body. Marfan syndrome most commonly affects the heart, eyes, blood vessels and skeleton. (Mayo Clinic 2018)
Marfan Foundation https://www.marfan.org/about/marfan
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/marfan-syndrome/symptoms-causes/syc-20350782
MedlinePlus https://medlineplus.gov/genetics/condition/marfan-syndrome/

Marshall Syndrome

Marshall syndrome is a rare autosomal dominant genetic disorder caused by mutations in the COL11A1 gene. Major symptoms may include a distinctive face with a flattened nasal bridge and nostrils that are tilted upward, widely spaced eyes, nearsightedness, cataracts and hearing loss. (National Organization for Rare Disorders 2015)
National Center for Rare Advancing Translational Sciences https://rarediseases.org/rare-diseases/marshall-syndrome/
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/marshall-syndrome/

Maroteaux-Lamy Syndrome (MPS VI)

Mucopolysaccharidosis type VI (MPS VI), also known as Maroteaux-Lamy syndrome, is a progressive condition that causes many tissues and organs to enlarge and become inflamed or scarred. Skeletal abnormalities are also common in this condition. The rate at which symptoms worsen varies among affected individuals. (MedlinePlus 2021)
MedlinePlus https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-vi/
St. Louis Children’s Hospital https://www.stlouischildrens.org/conditions-treatments/maroteaux-lamy-syndrome

Moebius Syndrome

Moebius syndrome is a rare congenital (present at birth) condition that results from underdevelopment of the facial nerves that control some of the eye movements and facial expressions. The condition can also affect the nerves responsible for speech, chewing and swallowing. (Johns Hopkins Medicine 2021)
Johns Hopkins Medicine https://www.hopkinsmedicine.org/health/conditions-and-diseases/moebius-syndrome
Medline Plus https://medlineplus.gov/genetics/condition/moebius-syndrome/
Moebius Syndrome Foundation https://moebiussyndrome.org/about-moebius-syndrome/what-is-moebius-syndrome/

Monosomy 10p (also known as: Deletion 10p; 10p deletion)

Monosomy 10p is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on the short arm (p) of chromosome 10. The severity and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features may affect many parts of the body and may include low birth weight, growth delay, developmental delay, low muscle tone (hypotonia), and communication difficulties. Birth defects, various medical problems, and/or distinctive facial features may also be present.(Genetic and Rare Diseases Information Center, 2018)
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/1323/chromosome-10p-deletion
National Organization of Rare Disorders https://rarediseases.org/rare-diseases/chromosome-10-monosomy-10p/

Morquio Syndrome (MPS IV-B)

Morquio syndrome is a rare genetic condition that affects a child’s bones and spine, organs and physical abilities. Children with this condition are missing or don’t produce enough of the enzymes that break down sugar chains naturally produced in the body. (Boston Children’s Hospital 2021)
Boston Children’s Hospital https://www.childrenshospital.org/conditions-and-treatments/conditions/m/morquio-syndrome
Children’s Hospital of Philadelphia https://www.chop.edu/conditions-diseases/morquio-syndrome
Mt. Sinai https://www.mountsinai.org/health-library/diseases-conditions/morquio-syndrome

NF1- Neurofibromatosis (vonRecklinghausen dis)

Neurofibromatosis type 1 is a condition characterized by changes in skin coloring (pigmentation) and the growth of tumors along nerves in the skin, brain, and other parts of the body. The signs and symptoms of this condition vary widely among affected people. (MedlinePlus 2021)
Medline Plus https://medlineplus.gov/genetics/condition/neurofibromatosis-type-1/
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/neurofibromatosis-type-1-nf1/

NF2-Bilateral Acoustic Neurofibromatosis

Neurofibromatosis type 2 is a disorder characterized by the growth of noncancerous tumors in the nervous system. The most common tumors associated with neurofibromatosis type 2 are called vestibular schwannomas or acoustic neuromas. These growths develop along the nerve that carries information from the inner ear to the brain (the auditory nerve). Tumors that occur on other nerves are also commonly found with this condition.(MedlinePlus 2013)
Cleveland Clinic https://my.clevelandclinic.org/health/diseases/16196-neurofibromatosis-type-2-nf2
MedlinePlus https://medlineplus.gov/genetics/condition/neurofibromatosis-type-2/

Norrie Disease

Norrie disease is an inherited eye disorder that leads to blindness in male infants at birth or soon after birth. It causes abnormal development of the retina, the layer of sensory cells that detect light and color, with masses of immature retinal cells accumulating at the back of the eye. (MedlinePlus 2020)
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/7224/norrie-disease
MedlinePlus https://medlineplus.gov/genetics/condition/norrie-disease/
Pediatric Retinal Research Association https://www.pediatricrrf.org/norrie-disease

Pfieffer Syndrome

Pfeiffer syndrome is a rare genetic disorder characterized by premature fusion of certain skull bones (craniosynostosis), and abnormally broad and medially deviated thumbs and great toes. Most affected individuals also have differences to their midface (protruding eyes) and conductive hearing loss.  (National Organization for Rare Disorders 2018)
Boston Children’s Hospital https://www.childrenshospital.org/conditions/pfeiffer-syndrome
Children’s Hospital of Philadelphia https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/
MedlinePlus https://medlineplus.gov/genetics/condition/pfeiffer-syndrome/
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/pfeiffer-syndrome/

Prader-Willi

Prader-Willi syndrome is a complex genetic condition that affects many parts of the body. In infancy, this condition is characterized by weak muscle tone (hypotonia), feeding difficulties, poor growth, and delayed development. Beginning in childhood, affected individuals develop an insatiable appetite, which leads to chronic overeating (hyperphagia) and obesity. Some people with Prader-Willi syndrome, particularly those with obesity, also develop type 2 diabetes (the most common form of diabetes). (MedlinePlus 2020)
Foundation for Prader-Willi Syndrome Research https://www.fpwr.org/about-prader-willi-syndrome#definition
MedlinePlus https://medlineplus.gov/genetics/condition/prader-willi-syndrome/#synonyms
Prader-Willi Syndrome Foundation https://www.pwsausa.org/what-is-prader-willi-syndrome/

Pierre-Robin Syndrome

Pierre Robin sequence is also known as Pierre-Robin syndrome or PierreRobin malformation. It is a rare congenital birth defect characterized by an underdeveloped jaw, backward displacement of the tongue and upper airway obstruction. Cleft palate is also commonly present in children with Pierre Robin sequence. (Johns Hopkins 2021)
Johns Hopkins Medicine https://www.hopkinsmedicine.org/health/conditions-and-diseases/pierre-robin-sequence
MedlinePlus https://medlineplus.gov/ency/article/001607.htm
Texas Children’s Hospital https://www.texaschildrens.org/health/pierre-robin-syndrome

Refsum Syndrome

Refsumsyndromeis an inherited condition that causes vision loss, absence of the sense of smell (anosmia), and a variety of other signs and symptoms. The vision loss associated with Refsum disease is caused by an eye disorder called retinitis pigmentosa. This disorder affects the retina, the light-sensitive layer at the back of the eye. (MedlinePlus 2016)
Foundation for Fighting Blindness https://www.fightingblindness.org/diseases/refsum-disease
MedlinePlus https://medlineplus.gov/genetics/condition/refsum-disease/
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/refsum-disease/

Scheie Syndrome (MPS-I-S)

Mucopolysaccharidosis type I (MPS I) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems. (Mt. Sinai 2021)
MedlinePlus https://medlineplus.gov/genetics/condition/mucopolysaccharidosis-type-i/
National Center for Advancing Translational Sciences https://rarediseases.info.nih.gov/diseases/12561/scheie-syndrome

Smith-Lemli-Opitz (SLO) Syndrome

Smith-Lemli-Opitz syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by distinctive facial features, small head size (microcephaly), intellectual disability or learning problems, and behavioral problems. Many affected children have the characteristic features of autism, a developmental condition that affects communication and social interaction. (MedlinePlus 2020)
MedlinePlus Https://medlineplus.gov/genetics/condition/smith-lemli-opitz-syndrome/
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/smith-lemli-opitz-syndrome/

Stickler Syndrome

Stickler syndrome is a genetic disorder that can cause serious vision, hearing and joint problems. Also known as hereditary progressive arthro-ophthalmopathy, Stickler syndrome is usually diagnosed during infancy or childhood. (Mayo Clinic 2021)
Boston Children’s Hospital https://www.childrenshospital.org/conditions/stickler-syndrome
Cleveland Clinic https://my.clevelandclinic.org/health/diseases/17987-stickler-syndrome
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/stickler-syndrome/symptoms-causes/syc-20354067
MedlinePlus https://medlineplus.gov/genetics/condition/stickler-syndrome/

Sturge-Weber Syndrome (SWS)

Sturge-Weber syndrome (SWS) is a rare disorder characterized by the association of a facial birthmark called a port-wine birthmark, neurological abnormalities, and eye abnormalities such as glaucoma.
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/sturge-weber-syndrome/
Kids Health https://kidshealth.org/en/parents/sturge-weber-syndrome.html
Medlineplus https://medlineplus.gov/genetics/condition/sturge-weber-syndrome/
Sturge-Weber Foundation https://sturge-weber.org/new-to-swf/understanding-sturge-weber.html

Treacher Collins Syndrome

Treacher Collins syndrome is a rare, genetic condition affecting the way the face  develops – especially the cheekbones, jaws, ears and eyelids. These differences often cause problems with breathing, swallowing, chewing, hearing and speech. (Seattle Children’s Hospital, 2021)
Kid’s Health https://kidshealth.org/en/Parents/tcs.html
MedlinePlus https://medlineplus.gov/genetics/condition/treacher-collins-syndrome/
Seattle Children’s Hospital https://www.seattlechildrens.org/conditions/treacher-collins/

Trisomy 13 (Trisomy 13-15, Patau Syndrome)

Trisomy 13, also called Patau syndrome, is a chromosomal condition associated with severe intellectual disability and physical abnormalities in many parts of the body. Individuals with trisomy 13 often have heart defects, brain or spinal cord abnormalities, very small or poorly developed eyes (microphthalmia) extra fingers or toes, an opening in the lip (a cleft lip) with or without an opening in the roof of the mouth (a cleft palate) and weak muscle tone (hypotonia).  (MedlinePlus 2013)
About Kid’s Health https://rarediseases.info.nih.gov/diseases/7341/trisomy-13
MedlinePlus https://medlineplus.gov/genetics/condition/trisomy-13/#frequency

Trisomy 18 (Edwards Syndrome)

Trisomy 18, also called Edwards syndrome, is a chromosomal condition associated with abnormalities in many parts of the body. Individuals with Trisomy 18 often have slow growth before birth (intrauterine growth retardation) and a low birth weight. Affected individuals may have heart defects and abnormalities of other organs that develop before birth. (MedlinePlus 2021)
MedlinePlus https://medlineplus.gov/genetics/condition/trisomy-18/
Trisomy 18 Foundation https://www.trisomy18.org/what-is-trisomy-18/

Turner Syndrome

Turner syndrome, a condition that affects only females, results when one of the X chromosomes (sex chromosomes) is missing or partially missing. Turner syndrome can cause a variety of medical and developmental problems, including short height, failure of the ovaries to develop and heart defects. (Mayo Clinic, 2017)
https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782 https://www.mayoclinic.org/diseases-conditions/turner-syndrome/symptoms-causes/syc-20360782
MedlinePlus https://medlineplus.gov/genetics/condition/turner-syndrome/
National Organization for Rare Disorders Https://rarediseases.org/rare-diseases/turner-syndrome/
Turner Syndrome Society Https://www.turnersyndrome.org/

Usher Syndrome (Usher I, II, III)

Usher syndrome is a rare genetic disorder primarily characterized due to a progressive loss of vision. Researchers have identified three clinical types of Usher syndrome. The age at which the symptoms appear and the severity of symptoms that distinguishes the different types of Usher syndrome are determined by the underlying genetic cause. Usher syndrome is inherited as an autosomal recessive genetic trait. (National Organization for Rare Disorders 2018)
MedlinePlus https://medlineplus.gov/genetics/condition/usher-syndrome/
National Institute on Deafness and Other Communication Disorders https://www.nidcd.nih.gov/health/usher-syndrome
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/usher-syndrome/
Usher Syndrome Coalition https://www.usher-syndrome.org/what-is-usher-syndrome/

Vogt-Koyanagi-Harada Syndrome

Vogt-Koyanagi-Harada syndromeis a rare disorder of unknown origin that affects many body systems, including the eyes, ears, skin, and the covering of the brain and spinal cord (the meninges). The most noticeable symptom is a rapid loss of vision. There may also be neurological signs such as severe headache, vertigo, nausea, and drowsiness. Loss of hearing, and loss of hair (alopecia) and skin color may occur along with whitening (loss of pigmentation) of the hair and eyelashes (poliosis). (National Organization for Rare Disorders, 2014)
Genic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/7862/vogt-koyanagi-harada-disease
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/vogt-koyanagi-harada-disease/

Waardenburg Syndrome

Waardenburg syndrome is a group of genetic conditions that can cause hearing loss and changes in coloring (pigmentation) of the hair, skin, and eyes. Although most people with Waardenburg syndrome have normal hearing, moderate to profound hearing loss can occur in one or both ears. (MedlinePlus 2020)
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/5525/waardenburg-syndrome
MedlinePlus https://medlineplus.gov/genetics/condition/waardenburg-syndrome/
Mr. Sinai https://www.mountsinai.org/health-library/diseases-conditions/waardenburg-syndrome
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/waardenburg-syndrome/

Wildervanck Syndrome

Wildervanck syndrome is a condition that affects the bones in the neck, the eyes, and the ears. It is characterized by Klippel-Feil anomaly (in which the bones of the neck fuse together), Duane syndrome (an eye movement disorder), and hearing loss. Wildervancksyndrome occurs primarily in females. (Genetic and Rare Diseases Information Center, 2016)
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/5569/wildervanck-syndrome
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/wildervanck-syndrome/

Wolf-Hirschhorn Syndrome (Trisomy 4p)

Wolf-Hirschhorn syndrome (WHS) is a genetic disorder that affects many parts of the body. The major features include a characteristic facial appearance, delayed growth and development, intellectual disability, low muscle tone (hypotonia), and seizures. (Genetic and Rare Diseases Information Center 2017)
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/7896/wolf-hirschhorn-syndrome
MedlinePlus https://medlineplus.gov/genetics/condition/wolf-hirschhorn-syndrome/
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/wolf-hirschhorn-syndrome/

Pre-Natal/Congenital Complications

Congenital Rubella

Congenital rubella syndrome (CRS) is an illness in infants that results from maternal infection with rubella virus during pregnancy. (Centers for Disease Control and Prevention 2020)
Centers for Disease Control and Prevention https://www.cdc.gov/vaccines/pubs/surv-manual/chpt15-crs.html
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/diseases/4744/congenital-rubella

Congenital Syphilis

Congenital syphilis occurs when the spirochete Treponema pallidum is transmitted from a pregnant woman to her fetus. Infection can result in stillbirth, prematurity, or a wide spectrum of clinical manifestations; only severe cases are clinically apparent at birth. (UptoDate 2021)
Centers for Disease Control and Prevention https://www.cdc.gov/std/syphilis/stdfact-congenital-syphilis.htm
National Organization for Rare Disorders https://rarediseases.org/rare-diseases/congenital-syphilis/
UptoDate https://www.uptodate.com/contents/congenital-syphilis-clinical-features-and-diagnosis

Congenital Toxoplasmosis

Congenital toxoplasmosis is a disease that occurs in fetuses infected with Toxoplasma gondii, a protozoan parasite, which is transmitted from mother to fetus. It can cause miscarriage or stillbirth. It can also cause serious and progressive visual, hearing, motor, cognitive, and other problems in a child. (HealthLine 2016)
HealthLine Parenthood https://www.healthline.com/health/congenital-toxoplasmosis
MedlinePlus https://medlineplus.gov/ency/article/001360.htm

Cytomegalovirus (CMV)

Cytomegalovirus (CMV) is closely related to the viruses that cause chickenpox and mononucleosis (mono). CMV infections are very common; most of us will probably have one in our lifetimes. Most people infected with CMV have no symptoms or mild symptoms. In healthy kids, a CMV infection is rarely serious. Any symptoms it does cause usually are mild and temporary. But cytomegalovirus (site-uh-meg-uh-low-VY-rus) can cause problems for an unborn child whose mother has the virus and for people with weakened immune systems. (KidsHealth 2018)
Centers for Disease Control and Prevention https://www.cdc.gov/cmv/index.html
KidsHealth https://kidshealth.org/en/parents/cytomegalovirus.html
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/cmv/symptoms-causes/syc-20355358

Fetal Alcohol Syndrome

Fetal alcohol syndrome is a condition in a child that results from alcohol exposure during the mother’s pregnancy. Fetal alcohol syndrome causes brain damage and growth problems. The problems caused by fetal alcohol syndrome vary from child to child, but defects caused by fetal alcohol syndrome are not reversible. (Mayo Clinic 2021)
Healthline Parenthood https://www.healthline.com/health/fetal-alcohol-syndrome#treatments
Healthy Children https://www.healthychildren.org/English/health-issues/conditions/chronic/Pages/Fetal-Alcohol-Spectrum-Disorders.aspx
KidsHealth https://kidshealth.org/en/parents/fas.html
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/fetal-alcohol-syndrome/symptoms-causes/syc-20352901

Hydrocephaly

Hydrocephalus is an abnormal buildup of fluid in the ventricles (cavities) deep within the brain. This excess fluid causes the ventricles to widen, putting pressure on the brain’s tissues. Cerebrospinal fluid (CSF) is the clear, colorless fluid that protects and cushions the brain and spine. (National Institute of Neurological Disorders and Stroke 2020)
Mayo Clinic Https://www.mayoclinic.org/diseases-conditions/hydrocephalus/symptoms-causes/syc-20373604
National Institute of Neurological Disorders and Stroke https://www.ninds.nih.gov/Disorders/Patient-Caregiver-Education/Fact-Sheets/Hydrocephalus-Fact-Sheet

Maternal Drug Use

Heroin, methadone, and heavy alcohol consumption during pregnancy are associated with lower birth weight and central nervous system (CNS) dysfunction. Alcohol and drug use by pregnant women is known as maternal substance use disorder (SUD). SUD is a serious problem with long-lasting effects and consequences for a child’s social, emotional and cognitive development. (Indian Health Services)
Indian Health Services https://www.ihs.gov/asap/providers/maternaladdiction/
MedlinePlus https://medlineplus.gov/ency/article/007238.htm
National Library of Medicine https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7304408/

Microcephaly

Microcephaly is a birth defect where a baby’s head is smaller than expected when compared to babies of the same sex and age. Babies with microcephaly often have smaller brains that might not have developed properly. (Centers for Disease Control and Prevention 2020)
Centers for Disease Control and Prevention https://www.cdc.gov/ncbddd/birthdefects/microcephaly.html
March of Dimes https://www.marchofdimes.org/complications/microcephaly.aspx
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/microcephaly/symptoms-causes/syc-20375051
Stanford Children’s Health https://www.stanfordchildrens.org/en/topic/default?id=microcephaly-90-P02610

Neonatal Herpes Simples

Neonatal herpes is a rare disorder affecting newborn infants infected with the herpes simplex virus (HSV), also called herpesvirus hominis. In most instances, a parent with oral or genital herpes transfers the disorder to an offspring before, during, or shortly after birth. Symptoms vary from mild to severe depending on which of two types of herpes simplex virus is involved. (National Organization of Rare Disorders 2009)
Boston Children’s Hospital https://www.childrenshospital.org/conditions-and-treatments/conditions/n/neonatal-herpes-simplex
National Organization of Rare Disorders https://rarediseases.org/rare-diseases/herpes-neonatal/

Post-Natal/Non-Congenital Complications

Asphyxia

Asphyxiation, also called asphyxia or suffocation, is when the body doesn’t get enough oxygen. Without immediate intervention, it can lead to loss of consciousness, brain injury, or death. (healthline 2021)
Healthline https://www.healthline.com/health/asphyxiation
MedicalNewsToay https://www.medicalnewstoday.com/articles/asphyxiation#prevention
Seattle Children’s Hospital https://www.seattlechildrens.org/conditions/birth-asphyxia/
WebMD https://www.webmd.com/first-aid/asphyxia-overview

Cortical Visual Impairment

Cortical visual impairment (CVI) is a decreased visual response due to a neurological problem affecting the visual part of the brain. Typically, a child with CVI has a normal eye exam or has an eye condition that cannot account for the abnormal visual behavior. Children with CVI display characteristic behaviors. (American Association for Pediatric Ophthalmology and Strabismus 2019)
American Association of Pediatric Ophthalmology and Strabismus https://aapos.org/glossary/cortical-visual-impairment
Perkins School for the Blind https://www.perkins.org/cvi-now/understanding-cvi/what-is-cvi

Direct Trauma to the eye and/or ear

Ear Trauma – Trauma to the ear and temporal bone (ear canal, ear drum, middle ear bones, inner ear) can result in different types of injury. (Stanford Ear Institute, 2021) Eye Trauma – Eye injuries can result from sports injuries, accidents and foreign objects in the eye. These can cause pain, swelling, redness and other symptoms. Some people see flashes of light or have vision changes. Serious injuries to the eye may cause permanent vision loss. (Cleveland Clinic 2021)
All About Vision https://www.seattlechildrens.org/conditions/a-z/eye-injury/
Cleveland Clinic https://my.clevelandclinic.org/health/diseases/16988-eye-injuries
KidsHealth https://kidshealth.org/en/parents/ear-injuries.html
McGovern Medical School https://med.uth.edu/orl/online-ear-disease-photo-book/chapter-12-ear-trauma/ear-trauma-discussion/
Seattle Children’s Hospital https://www.seattlechildrens.org/conditions/a-z/eye-injury/
Stanford Medical https://med.stanford.edu/ohns/OHNS-healthcare/earinstitute/conditions-and-services/conditions/ear-injuries-and-trauma.html
WebMd https://www.webmd.com/eye-health/eye-injuries-causes

Encephalitis

Encephalitis is inflammation of the active tissues of the brain caused by an infection or an autoimmune response. The inflammation causes the brain to swell, which can lead to headache, stiff neck, sensitivity to light, mental confusion and seizures. (Johns Hopkins 2021)
Johns Hopkins Hospital https://www.hopkinsmedicine.org/health/conditions-and-diseases/encephalitis
KidsHealth https://kidshealth.org/en/parents/encephalitis.html
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/encephalitis/symptoms-causes/syc-20356136
MedicalNewsToday https://www.medicalnewstoday.com/articles/168997#causes

Infections

An infection occurs when another organism enters your body and causes disease. The organisms that cause infections are very diverse and can include things like viruses, bacteria, fungi, and parasites. (healthline2018)
Boys Town National Research Hospital https://www.boystownhospital.org/knowledge-center/do-ear-infections-cause-hearing-loss
Healthline https://www.healthline.com/health/infections#1
Research to Prevent Blindness https://www.rpbusa.org/rpb/resources-and-advocacy/resources/rpb-vision-resources/infectious-diseases/

Meningitis

Meningitis is an inflammation (swelling) of the protective membranes covering the brain and spinal cord. A bacterial or viral infection of the fluid surrounding the brain and spinal cord usually causes the swelling. However, injuries, cancer, certain drugs, and other types of infections also can cause meningitis. (Centers for Disease Control and Prevention 2020)
Centers for Disease Control and Prevention https://www.cdc.gov/meningitis/index.html
KidsHealth https://kidshealth.org/en/parents/meningitis.html
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/meningitis/symptoms-causes/syc-20350508

Severe Head Injury

Head injuries are one of the most common causes of disability and death in adults. The injury can be as mild as a bump, bruise (contusion), or cut on the head, or can be moderate to severe in nature due to a concussion, deep cut or open wound, fractured skull bone(s), or from internal bleeding and damage to the brain. A head injury is a broad term that describes a vast array of injuries that occur to the scalp, skull, brain, and underlying tissue and blood vessels in the head. Head injuries are also commonly referred to as brain injury, or traumatic brain injury (TBI), depending on the extent of the head trauma. (Johns Hopkins 2021)
Healthline https://www.healthline.com/health/head-injury#treatments
Johns Hopkins Hospital https://www.hopkinsmedicine.org/health/conditions-and-diseases/head-injury
WebMD https://www.webmd.com/fitness-exercise/guide/head-injuries-causes-and-treatments#1

Stroke

A stroke occurs when the blood supply to part of your brain is interrupted or reduced, preventing brain tissue from getting oxygen and nutrients. Brain cells begin to die in minutes. A stroke is a medical emergency, and prompt treatment is crucial. Early action can reduce brain damage and other complications. (Mayo Clinic 2021)
Cincinnati Children’s Hospital https://www.cincinnatichildrens.org/health/s/stroke
Johns Hopkins Hospital https://www.hopkinsmedicine.org/health/conditions-and-diseases/stroke/pediatric-stroke
KidsHealth https://kidshealth.org/en/parents/strokes.html
Mayo Clinic https://www.mayoclinic.org/diseases-conditions/stroke/symptoms-causes/syc-20350113

Tumors

Hearing loss – Hearing loss is a possible side effect of some pediatric cancers or cancer treatments. Certain cancer medicines and other treatments, including radiation and surgery, can damage the ear, resulting in hearing loss. In some cases, hearing loss may develop due to the tumor itself. (Together St. Jude Research Hospital 2019) Vision loss -Pediatric brain tumors can distort, damage, and destroy portions of the brain involved in both the afferent and efferent vision pathways. This interruption of normal visual pathways can lead to permanent vision loss or other morbidities such as strabismus and nystagmus. (National Medical Library 2019)
American Cancer Society https://www.cancer.org/cancer/cancer-in-children/types-of-childhood-cancers.html
National Medical Library https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6152840/
St. Jude Research Hospital https://www.stjude.org/disease/optic-pathway-tumor.html

Chemically Induced

Chemical burns occur when a child gets any type of chemical in his/her eye. This is a medical emergency, and the child should receive immediate medical care. Chemical burns can result in a loss of vision and even a loss of the eye itself, if not treated promptly and accurately. Household cleaning agents are a common cause of this type of injury. (Children’s Hospital of Philadelphia 2021)
C.S. Mott Children’s Hospital https://www.mottchildren.org/health-library/chbey

YOU ARE INVITED!

Annual OCDBE Parent Retreat

DATES:

April 26-April 28, 2024

LOCATION:

Deer Creek State Park Lodge

PRESENTER:

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NO COST | PARENTS ONLY

Register by March 15, 2024