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Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

rare

Extremely rare primordial dwarfism characterized by short stature, onychodysplasia, facial dysmorphism and hypotrichosis, which is caused by biallelic mutations in the POC1A gene.

Identifiers
MONDO:0013894 OMIM:614813Orphanet:314394
Causal genes
POC1A
Part of
Primordial dwarfism and slender bone disorderSyndromic disease
Also known as
short stature, onychodysplasia, facial dysmorphism, and hypotrichosis · soft · soft syndrome

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