Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome

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Synonyms: FHEIG syndrome

A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by variable intellectual disability and/or developmental delay epilepsy generalized hypertrichosis severe gingival overgrowth and visual impairment in some patients. Common craniofacial features include bitemporal narrowing bushy and straight eyebrows long eyelashes low-set ears deep/short philtrum everted upper lip prominent upper and lower vermilion wide mouth micrognathia and retrognathia.

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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Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome?

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