This syndrome is characterized by intellectual deficit, short stature, obesity, genital abnormalities, and hand and/or toe contractures. It has been described in two brothers and in one isolated case. The patients also present with generalized osteoporosis and a history of frequent fractures. This syndrome is similar to Prader-Willi syndrome, but the hand contractures and osteoporosis, together with the lack of hypotonia, indicate this is a different entity.
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Neu-Laxova syndrome
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acrofacial dysostosis, Catania type
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aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
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craniofaciofrontodigital syndrome
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