Bartsocas-Papas syndrome 1

Bartsocas-Papas syndrome 1 is a rare genetic condition that affects many parts of the body. People with this condition may have severe webbing behind the knees (popliteal webbing) along with a small head (microcephaly) and a distinct facial appearance, which may include short eye openings (short palpebral fissures) and an underdeveloped nose (hypoplastic nose). Other facial features can include joined or partially joined eyelids (ankyloblepharon), thin bands between the jaws (filiform bands), and facial clefts. In addition to the facial and limb differences, this syndrome may include issues like fewer fingers or toes (oligosyndactyly), genital abnormalities, and extra changes to the skin, hair, eyebrows, lashes, and nails. The condition is typically inherited and is often very serious, with many infants not surviving the newborn period. However, there are cases where affected children have lived into childhood.

Common symptoms of Bartsocas-Papas syndrome 1 include severe popliteal webbing, microcephaly, and a distinct facial appearance with features like short palpebral fissures and ankyloblepharon. People with this condition may also have a hypoplastic nose, filiform bands between the jaws, facial clefts, oligosyndactyly, genital abnormalities, and other ectodermal anomalies such as absent hair, eyebrows, lashes, and nails.

Bartsocas-Papas syndrome 1 is caused by inherited genetic changes. A key gene involved is RIPK4. This condition follows an autosomal recessive pattern, which means that a child needs to inherit two copies of the changed gene, one from each parent, to develop the syndrome.

Information about treatment is currently limited for this condition.

The outlook for Bartsocas-Papas syndrome 1 is generally poor, as the condition is often fatal during the neonatal period. However, there have been reports of children living into later childhood. The severity and range of symptoms can vary, and the overall quality of life for people with this condition may be significantly impacted by the complex challenges it presents.

Information about current research and future directions is currently limited for this condition.