Syndromes and Causes of Deafblindness
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 Foundation | https://aicardisyndromefoundation.org/ |
| MedlinePlus | https://medlineplus.gov/genetics/condition/aicardi-syndrome/ |
| National Institute of Neurological Disorders and Stroke | https://www.ninds.nih.gov/Disorders/All-Disorders/Aicardi-Syndrome-Information-Page |
| National Organization for Rare Disorders | https://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 Hospital | https://www.cincinnatichildrens.org/health/c/charge-syndrome |
| CHARGE Syndrome Foundation | https://www.chargesyndrome.org/about-charge/overview/ |
| MedlinePlus | https://medlineplus.gov/genetics/condition/charge-syndrome/ |
| National Organization of Rare Disorders | https://rarediseases.org/rare-diseases/charge-syndrome/ |
| Ohio Center for Deafblind Education | https://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)
| MedlinePlus | https://medlineplus.gov/genetics/condition/cockayne-syndrome/ |
| National Organization of Rare Disorders | https://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 Version | https://www.merckmanuals.com/professional/eye-disorders/corneal-disorders/cogan-syndrome |
| National Center for Advancing Translational Sciences | https://rarediseases.info.nih.gov/diseases/1421/cogans-syndrome |
| Vasculitis Foundation | https://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 Foundation | https://www.cdlsusa.org/ |
| MedlinePlus | https://medlineplus.gov/genetics/condition/cornelia-de-lange-syndrome/ |
| National Organization for Rare Disorders | https://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)
| MedlinePlus | https://medlineplus.gov/genetics/condition/cri-du-chat-syndrome/ |
| National Human Genome Research Institute | https://www.genome.gov/Genetic-Disorders/Cri-du-Chat |
| National Organization for Rare Disorders | https://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 Pittsburgh | https://www.chp.edu/our-services/transplant/liver/education/liver-disease-states/crigler-najjar-syndrome |
| MedlinePlus | https://medlineplus.gov/genetics/condition/crigler-najjar-syndrome/ |
| National Organization for Rare Diseases | https://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 Hospital | https://childrensnational.org/visit/conditions-and-treatments/prenatal-care-pregnancy/dandy-walker-malformation |
| MedlinePlus | https://medlineplus.gov/genetics/condition/dandy-walker-malformation/ |
| National Organization for Rare Diseases | https://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)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 Clinic | https://my.clevelandclinic.org/health/articles/6037-leighs-disease |
| MedlinePlus | https://medlineplus.gov/genetics/condition/leigh-syndrome/ |
| United Mitochondrial Disease Foundation | https://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)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)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)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)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)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)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 |
