Autosomal recessive amelia

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Autosomal recessive amelia

A rare disorder characterised by the absence of the upper limbs and severe underdevelopment of the lower limbs. Minor facial abnormalities (depressed nasal root upturned nose infra-orbital creases prominent cheeks and micrognathia) were also reported. The syndrome has been described in three foetuses born to non consanguineous parents.

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 Data version December 2023

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Autosomal recessive amelia?

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