brachytelephalangy-dysmorphism-Kallmann syndrome
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:0002254
syndromic disease
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MONDO:0015161
multiple congenital anomalies/dysmorphic syndrome without intellectual disability
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MONDO:0015770
congenital hypogonadotropic hypogonadism
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MONDO:0018234
dysostosis
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MONDO:0019054
congenital limb malformation
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