Short stature-brachydactyly-obesity-global developmental delay syndrome

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Synonyms: SBIDDS

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.

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 June 2024

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