Shah-Waardenburg syndrome
Shah-Waardenburg Syndrome Shah-Waardenburg syndrome is a rare genetic disorder that combines features of Waardenburg syndrome and Hirschsprung's disease. It is characterized by a combination of auditory-pigmentary abnormalities and intestinal issues.
Clinical Features[edit | edit source]
Shah-Waardenburg syndrome presents with a variety of clinical features, which can include:
- Hearing Loss: Sensorineural hearing loss is common in individuals with this syndrome.
- Pigmentary Abnormalities: These may include heterochromia iridis (different colored eyes), white forelock, and skin depigmentation.
- Intestinal Aganglionosis: This is a hallmark of Hirschsprung's disease, where there is an absence of ganglion cells in the intestinal tract, leading to severe constipation or intestinal obstruction.
Genetics[edit | edit source]
Shah-Waardenburg syndrome is typically inherited in an autosomal dominant pattern, although cases of autosomal recessive inheritance have been reported. The syndrome is associated with mutations in several genes, including:
- EDNRB: The endothelin receptor type B gene, which is involved in the development of neural crest cells.
- EDN3: The endothelin 3 gene, which also plays a role in neural crest cell development.
- SOX10: A transcription factor gene that is crucial for the development of neural crest cells and the enteric nervous system.
Diagnosis[edit | edit source]
Diagnosis of Shah-Waardenburg syndrome is based on clinical evaluation, family history, and genetic testing. Audiological assessments and imaging studies may be used to evaluate hearing loss and intestinal abnormalities.
Management[edit | edit source]
Management of Shah-Waardenburg syndrome involves addressing the individual symptoms:
- Hearing Loss: Hearing aids or cochlear implants may be recommended.
- Intestinal Issues: Surgical intervention, such as a pull-through procedure, may be necessary to treat Hirschsprung's disease.
- Genetic Counseling: Families may benefit from genetic counseling to understand the inheritance pattern and risks for future offspring.
See Also[edit | edit source]
External Links[edit | edit source]
NIH genetic and rare disease info[edit source]
Shah-Waardenburg syndrome is a rare disease.
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