Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome

Orpha code: 314394OMIM code: 614813

Definition

Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome is a rare, genetic, primary bone dysplasia disorder characterized by severe pre- and post-natal short stature, facial dysmorphism (incl.dolicocephaly, long triangular face, tall forehead, down-slanting palpebral fissures, prominent nose, long philtrum, small ears), early-onset or postpubertal sparse, short hair and hypoplastic fingernails. Small hands with tapering fingers, bracydactyly and fifth-finger clinodactyly, as well as a high-pitched voice are also associated.

Disease data
Classification

Disease

Synonyms
SOFT syndrome
Zespół SOFT
ORPHA code
314394
OMIM code
614813
ICD10 code
Q87.1
ICD11 code
-

No additional description.

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