Short stature-brachydactyly-obesity-global developmental delay syndrome

Disease definition

A rare genetic, multiple congenital anomalies syndrome characterized by short stature, hand brachydactyly with hypoplastic distal phalanges, global development delay, intellectual disability, and more variably seizures, obesity, and craniofacial dysmorphism that includes microcephaly, high forehead, flat face, hypertelorism, deep set eyes, flat nasal bridge, averted nostrils, long philtrum, thin lip vermilion, and short neck.

The summary has just been updated on Orphanet (ORPHA:464288) – October 2020 and revised by Dr Irene VALENZUELA for ERN ITHACA.

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