Conditions / Syndrome
MEDNIK syndrome
info · Syndrome
A syndrome characterized by mental retardation, enteropathy, deafness, peripheral neuropathy, ichthyosis, and keratoderma. It is cause by homozygous mutation in the AP1S1 gene on chromosome 7q22.
Signs and symptoms
- Diarrhea
- Increased circulating very long-chain fatty acid concentration
- Ichthyosis
- High forehead
- Global developmental delay
- Hypotonia
- Sensorineural hearing impairment
- Upslanted palpebral fissure
- Cholestasis
- Erythema
Also known as: erythrokeratodermia variabilis 3; erythrokeratodermia variabilis, Kamouraska type; mental retardation, enteropathy, deafness, neuropathy, ichthyosis, keratodermia