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.

Anal atresia

Congenital absence of the anus, i.e., the opening at the bottom end of the intestinal tract.


Total: 1

                      


(per page)
PMID (PMCID)
7856636
MALE Infant, Newborn
Bartsocas-Papas syndrome with internal anomalies: evidence for a more generalized epithelial defect or new syndrome?
Hennekam RC, Huber J, Variend D.
Am J Med Genet. 1994;53(2):102-7.
We report on two Dutch sibs with external anomalies compatible with Bartsocas-Papas syndrome, who also had internal anomalies: bilateral renal agenesis in one, and esophageal atresia, hypoplastic diaphragma, unilateral renal agenesis, agenesis of the shaft of the penis, and anal atresia in the other patient.