Bartsocas-Papas syndrome

A rare genetic disorder characterized by limb and facial abnormalities

Bartsocas-Papas syndrome (also known as Popliteal pterygium syndrome type B) is a rare genetic disorder that is primarily characterized by congenital limb and facial abnormalities. This condition is inherited in an autosomal recessive pattern and is associated with mutations in the RPLP1 gene.

Presentation

Individuals with Bartsocas-Papas syndrome typically present with a range of physical anomalies. These may include syndactyly (fusion of fingers and toes), cleft lip and/or cleft palate, and ankyloblepharon (fusion of the eyelids). Additional features can include genital abnormalities, popliteal pterygium (webbing behind the knee), and micrognathia (a small jaw).

Autosomal recessive inheritance pattern

Genetics

Bartsocas-Papas syndrome is caused by mutations in the RPLP1 gene, which plays a role in the development of various body structures. The disorder follows an autosomal recessive inheritance pattern, meaning that an affected individual must inherit two copies of the mutated gene, one from each parent. Parents of an affected child are typically carriers, each possessing one copy of the mutated gene but not exhibiting symptoms themselves.

Diagnosis

Diagnosis of Bartsocas-Papas syndrome is primarily based on clinical evaluation and the identification of characteristic physical features. Genetic testing can confirm the diagnosis by identifying mutations in the RPLP1 gene. Prenatal diagnosis is possible if the genetic mutation is known in the family.

Management

Management of Bartsocas-Papas syndrome is symptomatic and supportive. Surgical interventions may be necessary to correct cleft lip and palate, release syndactyly, and address other physical anomalies. Multidisciplinary care involving pediatricians, geneticists, surgeons, and other specialists is often required to address the complex needs of affected individuals.

Prognosis

The prognosis for individuals with Bartsocas-Papas syndrome varies depending on the severity of the condition and the presence of associated complications. Early intervention and comprehensive medical care can improve outcomes and quality of life for affected individuals.

Related pages

• Genetic disorder
• Syndactyly
• Cleft lip and palate
• Autosomal recessive