Bartsocas–Papas syndrome

Bartsocas-Papas syndrome (BPS) is a rare, autosomal recessive genetic disorder characterized by severe physical deformities and malformations affecting multiple body systems. The syndrome was first described by Bartsocas and Papas in 1972.

Clinical Features

The clinical features of Bartsocas-Papas syndrome are highly variable, but typically include severe craniofacial abnormalities, cleft lip and palate, syndactyly (webbing or fusion of fingers and toes), popliteal pterygium (webbing of the skin behind the knees), and genital abnormalities. Other features may include microphthalmia (small eyes), anophthalmia (absence of one or both eyes), hypertelorism (widely spaced eyes), and cryptorchidism (undescended testes in males).

Genetics

Bartsocas-Papas syndrome is caused by mutations in the Ripply2 gene. This gene provides instructions for making a protein that is involved in the development of many parts of the body, including the face, limbs, and reproductive system. Mutations in the Ripply2 gene disrupt this development, leading to the physical abnormalities seen in Bartsocas-Papas syndrome.

Diagnosis

Diagnosis of Bartsocas-Papas syndrome is based on the presence of characteristic clinical features. Genetic testing can confirm the diagnosis by identifying a mutation in the Ripply2 gene.

Treatment

There is currently no cure for Bartsocas-Papas syndrome. Treatment is supportive and based on the specific symptoms present in each individual. This may include surgery to correct physical deformities, speech therapy for individuals with cleft lip and palate, and physical therapy for individuals with limb abnormalities.

Prognosis

The prognosis for individuals with Bartsocas-Papas syndrome is poor. Many affected individuals die in infancy or early childhood due to severe physical abnormalities. However, some individuals with milder forms of the syndrome have survived into adulthood.

NIH genetic and rare disease info

• NIH info on Bartsocas–Papas syndrome

Bartsocas–Papas syndrome is a rare disease.

Bartsocas–Papas syndrome Resources
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