Wiedemann-Steiner syndrome

Orpha code: 319182OMIM code: 605130

Definition

A rare, genetic multiple congenital anomalies/dysmorphic syndrome characterized by short stature, hypertrichosis (most commonly of the back or elbow regions), facial dysmorphism, behavioral problems, developmental delay and, most commonly, mild to moderate intellectual disability.

Disease data
Classification

Malformation syndrome

Synonyms
Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
Zespół hipertrichoza-niski wzrost-dysmorfia twarzy-opóźnienie rozwoju
ORPHA code
319182
OMIM code
605130
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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