Bartsocas-Papas 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.

Ankyloblepharon

Partial fusion of the upper and lower eyelid margins by single or multiple bands of tissue.


Total: 2

                      


(per page)
PMID (PMCID)
14608644
MIXED_SAMPLE Infant, Newborn
Unreported manifestations in two Dutch families with Bartsocas-Papas syndrome.
Veenstra-Knol HE, Kleibeuker A, Timmer A, ten Kate LP, van Essen AJ.
Am J Med Genet A. 2003;123A(3):243-8.
Bartsocas-Papas syndrome (BPS) is a severe autosomal recessive syndrome characterized by neonatal or intrauterine death in most cases, severe popliteal webbing, oligosyndactyly, genital abnormalities, and typical face with short palpebral fissures, ankyloblepharon, hypoplastic nose, orofacial clefts, and small mouth.
10517476
FEMALE Infant
Bartsocas-Papas syndrome with fusion of the lips and posterior fusion defects of the thoracic vertebrae.
Mavili ME, Karamursel S, Vargel I, Erk Y.
Ann Plast Surg. 1999;43(4):443-5.
Bartsocas-Papas syndrome is a rare popliteal pterygial syndrome with multiple anomalies including microcephaly, facial clefts, filiform bands, ankyloblepharon, syndactyly, and other ectodermal anomalies.