Bartsocas-Papas syndrome

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Synonyms: Autosomal recessive popliteal pterygium syndrome | Lethal popliteal pterygium syndrome

Bartsocas-Papas syndrome is a rare inherited popliteal pterygium syndrome (see this term) characterized by severe popliteal webbing microcephaly a typical face with short palpebral fissures ankyloblepharon hypoplastic nose filiform bands between the jaws and facial clefts oligosyndactyly genital abnormalities and additional ectodermal anomalies (i.e. absent hair eyebrows lashes nails). It is often fatal in the neonatal period but patients living until childhood 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 October 2024

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