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Brachytelephalangy-dysmorphism-Kallmann syndrome

MONDO:0007231

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.

Also known as: BRACHYTELEPHALANGY with characteristic facies and Kallmann syndrome

1 clinical trial for this condition and its sub-types, 0 tagged with Brachytelephalangy-dysmorphism-Kallmann syndrome itself.

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