Velo-facial-skeletal syndrome

Orpha code: 3424OMIM code: 600736

Definicja

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
Klasyfikacja

Malformation syndrome

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

No additional description.

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