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Short stature-webbed neck-heart disease syndrome

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Short stature-webbed neck-heart disease syndrome is characterized by short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin sibs born to consanguineous parents.

Identifiers
MONDO:0017315 Orphanet:2865
Part of
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Also known as
Al Gazali Aziz Salem syndrome · Al Gazali-Aziz-Salem syndrome · short stature, intellectual disability, facial dysmorphism, short webbed neck, skin changes and congenital heart disease · short stature, webbed neck, heart disease

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