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.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Our RARE Concierge Services Guides are available to assist you by providing information, resources and connections as you navigate your rare disease journey.
National Foundation for Ectodermal Dysplasias
The NFED mission is to empower and connect those touched by ectodermal dysplasias through education, support and research.
For a list of clinical trials in this disease area, please click here.