Hypotrichosis-intellectual disability, Lopes type

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Synonyms: Lopes-Marques de Faria syndrome

A rare ectodermal dysplasia syndrome characterized by hypotrichosis of scalp and eyebrows finger syndactyly intellectual disability and early eruption of teeth. Facial dysmorphism (i.e. round face with prominent forehead cheeks and ears and upward-slanting palpebral fissures) hypoplasia of median and distal phalanges and kyphosis are additionally observed features. There have been no further descriptions in the literature since 1996.

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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Hypotrichosis-intellectual disability, Lopes type?

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