/Bartsocas-Papas syndrome 1

Bartsocas-Papas syndrome 1

Rare Disease

MONDO:0009901

Also Known As

Bartsocas Papas syndromeBartsocas-Papas syndromeautosomal recessive popliteal pterygium syndromelethal popliteal pterygium syndromepopliteal pterygium syndrome, Bartsocas-Papas type 1popliteal pterygium syndrome, lethal typeBPSmultiple pterygium syndrome, Aslan typepopliteal pterygium syndrome lethal typepopliteal pterygium syndrome, Bartsocas-Papas typepterygium popliteal lethal typepterygium, popliteal, lethal type

Definition

A rare, inherited, popliteal pterygium syndrome 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.