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Short stature-webbed neck-heart disease syndrome

MedGen UID:
419677
•Concept ID:
C2930950
•
Disease or Syndrome
Synonym: Al Gazali Aziz Salem syndrome
SNOMED CT: Al Gazali Aziz Salem syndrome (721073008); Short stature with webbed neck and congenital heart disease syndrome (721073008)
Modes of inheritance:
Unknown inheritance
MedGen UID:
989040
•Concept ID:
CN307042
•
Finding
Source: Orphanet
Hereditary clinical entity whose mode of inheritance is unknown.
See: This record
Unknown inheritance (Orphanet)
 
Monarch Initiative: MONDO:0017315
Orphanet: ORPHA2865

Definition

This syndrome has characteristics of short stature, intellectual deficit, facial dysmorphism, short webbed neck, skin changes and congenital heart defects. It has been reported in four Arab Bedouin siblings born to consanguineous parents. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVShort stature-webbed neck-heart disease syndrome
Follow this link to review classifications for Short stature-webbed neck-heart disease syndrome in Orphanet.

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