Brachytelephalangy-dysmorphism-Kallmann syndrome
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version April 2024
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