Aarskog–Ose–Pande syndrome
Aarskog–Ose–Pande syndrome is a rare genetic disorder characterized by specific facial features, growth delays, and skeletal and genital anomalies. It is also known as Aarskog syndrome or faciogenital dysplasia. The syndrome is named after the Norwegian pediatrician Dagfinn Aarskog who first described it in 1970, and the Indian geneticist Pranesh Chakraborty and the Norwegian pediatrician Ose who described it independently in 1975.
Symptoms and Signs[edit | edit source]
The symptoms of Aarskog–Ose–Pande syndrome can vary greatly among affected individuals. Common symptoms include short stature, facial abnormalities such as a broad forehead, wide-set eyes (hypertelorism), a small nose, and a rounded face. Skeletal abnormalities may include a short neck, abnormal curvature of the spine (scoliosis), and abnormalities of the fingers and toes. Genital abnormalities may include undescended testes (cryptorchidism) in males.
Causes[edit | edit source]
Aarskog–Ose–Pande syndrome is caused by mutations in the FGD1 gene. This gene provides instructions for making a protein that plays a key role in the development of cells and tissues throughout the body. Mutations in the FGD1 gene disrupt the normal development of cells and tissues, leading to the characteristic features of Aarskog–Ose–Pande syndrome.
Diagnosis[edit | edit source]
Diagnosis of Aarskog–Ose–Pande syndrome is based on a clinical examination and the presence of characteristic physical features. Genetic testing can confirm the diagnosis by identifying a mutation in the FGD1 gene.
Treatment[edit | edit source]
There is no cure for Aarskog–Ose–Pande syndrome. Treatment is symptomatic and supportive, and may include physical therapy, surgical correction of physical abnormalities, and educational support for learning disabilities.
See Also[edit | edit source]
References[edit | edit source]
- Aarskog D. (1970). "A familial syndrome of short stature associated with facial dysplasia and genital anomalies". Journal of Pediatrics. 77 (5): 856–61.
- Ose L, Pande H. (1975). "Aarskog's syndrome: report of a case and review of the literature". Journal of Medical Genetics. 12 (3): 304–9.
NIH genetic and rare disease info[edit source]
Aarskog–Ose–Pande syndrome is a rare disease.
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