Orphanet: Bartsocas Papas syndrome

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Bartsocas-Papas syndrome

Disease definition

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.

ORPHA:1234

Classification level: Disorder

Synonym(s):
- Autosomal recessive popliteal pterygium syndrome
- Lethal popliteal pterygium syndrome
Prevalence: <1 / 1 000 000
Inheritance: Autosomal recessive
Age of onset: Antenatal, Neonatal
ICD-10: Q87.2
ICD-11: LD26.4Y
OMIM: 263650 619339
UMLS: C1849718
MeSH: C564874
GARD: 4436
MedDRA: -

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Bartsocas-Papas syndrome

ORPHA:1234

A summary on this disease is available in Español (2014) Français (2014) Italiano (2014) Nederlands (2014) Polski (2014, pdf)

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