Osebold–Remondini syndrome

Osebold–Remondini syndrome is a rare genetic disorder characterized by multiple congenital anomalies. The syndrome was first described by American geneticist William R. Osebold and Italian geneticist Giuseppe Remondini in 1981.

Clinical Features

The clinical features of Osebold–Remondini syndrome include craniofacial abnormalities, skeletal abnormalities, cardiac defects, and intellectual disability. The craniofacial abnormalities often include microcephaly (small head size), hypertelorism (widely spaced eyes), and cleft palate. Skeletal abnormalities may include scoliosis (curvature of the spine), pectus excavatum (sunken chest), and clubfoot. Cardiac defects can range from minor to severe, and may include congenital heart defects such as ventricular septal defect (hole in the heart). Intellectual disability is also common, with varying degrees of severity.

Genetics

Osebold–Remondini syndrome is thought to be an autosomal recessive disorder, which means that an individual must inherit two copies of the defective gene, one from each parent, in order to develop the syndrome. The exact gene responsible for the syndrome has not yet been identified.

Diagnosis and Treatment

Diagnosis of Osebold–Remondini syndrome is based on clinical features and may be confirmed by genetic testing. Treatment is symptomatic and supportive, and may include surgical correction of physical abnormalities, physical therapy, and special education services for intellectual disability.

See Also

• List of genetic disorders
• Congenital anomalies
• Autosomal recessive inheritance

NIH genetic and rare disease info

• NIH info on Osebold–Remondini syndrome

Osebold–Remondini syndrome is a rare disease.

Osebold–Remondini syndrome Resources
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