Velo-facial-skeletal syndrome

Orpha code: 3424OMIM code: 600736

Definition

A very rare multiple congenital anomalies syndrome characterized by short stature, facial dysmorphism (elongated face, hypertelorism, broad and high nasal bridge, mild epicanthus, posteriorly angulated ears, narrow and high-arched palate), skeletal anomalies (mesomelic brachymelia, short broad hands, prominent finger pads, short stubby thumbs, hyperextensibility of small joints, small feet), hypernasality and normal intelligence. Delayed bone age has also been reported.

Disease data
Classification

Malformation syndrome

ORPHA code
3424
OMIM code
600736
ICD10 code
Q87.0
ICD11 code
-

No additional description.

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