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brachytelephalangy-dysmorphism-Kallmann syndrome

Disease Summary
Associated Targets ()

Mondo Description Brachytelephalangy - dysmorphism - Kallmann syndrome is a developmental anomaly characterized by brachytelephalangy, distinct craniofacial features (prominent square forehead, telecanthus, small nose, malar hypoplasia, smooth philtrum and thin upper lip), and relative to other family members, a short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (considered as Kallman syndrome). Brachytelephalangy - dysmorphism - Kallmann syndrome has been described in a mother and her son and there have been no further descriptions in the literature since 1986.
Mondo Term and Equivalent IDs
MONDO:0007231:  brachytelephalangy-dysmorphism-Kallmann syndrome
MESH:C537101: 
Orphanet:1295: 
UMLS:C2931421: