Hennekam-Beemer syndrome

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Synonyms: Mastocytosis-short stature-deafness syndrome | Mastocytosis-short stature-hearing loss syndrome

A rare multiple congenital anomalies syndrome characterized by cutaneous mastocytosis microcephaly microtia and/or hearing loss hypotonia and skeletal anomalies (e.g. clinodactyly camptodactyly scoliosis). Additional common features are short stature intellectual disability and difficulties. Facial dysmorphism may include upslanted palpebral fissures highly arched palate and micrognathia. Rarely seizures and asymmetrically small feet have been reported.

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 May 2024

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Hennekam-Beemer syndrome?

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