Bartsocas-Papas syndrome

Orpha code: 1234OMIM code: 619339

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.

Disease data
Classification

Malformation syndrome

Synonyms
Autosomal recessive popliteal pterygium syndrome
Autosomalny recesywny zespół płetwistości podkolanowych
Letalny zespół płetwistości podkolanowych
Lethal popliteal pterygium syndrome
ORPHA code
1234
OMIM code
619339
ICD10 code
Q87.2
ICD11 code
LD26.4Y

No additional description.

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