Short stature-webbed neck-heart disease syndrome

Orpha code: 2865OMIM code:

Definition

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.

Disease data
Classification

Malformation syndrome

Synonyms
Al Gazali-Aziz-Salem syndrome
Zespół Al Gazali, Aziz i Salem
ORPHA code
2865
OMIM code
-
ICD10 code
Q87.8
ICD11 code
-

No additional description.

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