PCWH syndrome

PCWH syndrome is a condition that combines features of Waardenburg-Shah syndrome with neurological findings. People with this condition may show signs such as sensorineural hearing loss, pigmentary abnormalities, and issues related to Hirschsprung disease. In addition, neurological problems such as neonatal hypotonia (low muscle tone), intellectual difficulties, nystagmus (rapid eye movement), progressive spasticity, ataxia (lack of balance or coordination), and epilepsy may be present. This syndrome is recognized for its combination of both pigmentary and neurological abnormalities. The information available primarily stems from the description of the syndrome’s characteristic clinical features, which include both the sensory and neurological components described above.

Common symptoms in people with PCWH syndrome include sensorineural hearing loss, pigmentary changes of the skin, hair or eyes, and the gastrointestinal problem Hirschsprung disease. There are also neurological signs such as low muscle tone in infancy, various levels of intellectual impairment, nystagmus, progressive spasticity, ataxia, and epilepsy.

PCWH syndrome is associated with changes in the SOX10 gene. This gene plays an important role in the development of various cell types, and mutations in this gene are linked to the clinical features seen in this condition. Genetic factors are believed to be the main underlying cause.

Information about treatment is currently limited for this condition.

Information about prognosis is currently limited for this condition.

Information about research is currently limited for this condition.