Orphanet: Brachytelephalangy dysmorphism Kallmann syndrome

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Disease definition

A rare 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, short stature. These features may be associated with anosmia and hypogonadotropic hypogonadism (Kallman syndrome). There have been no further descriptions in the literature since 1986.

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Brachytelephalangy-dysmorphism-Kallmann syndrome

ORPHA:1295

A summary on this disease is available in Français (2005) Italiano (2005) Español (2014) Nederlands (2014) Polski ()

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