Cryptophthalmos-syndactyly syndrome

Cryptophthalmos-syndactyly syndrome is a rare genetic disorder characterized by the combination of cryptophthalmos, a condition where the eyelids fail to separate during fetal development, and syndactyly, a condition where two or more digits are fused together. This syndrome is also known as Fraser syndrome.

Etiology

Cryptophthalmos-syndactyly syndrome is caused by mutations in the FRAS1, FREM2, and GRIP1 genes. These genes are involved in the development of the skin and its appendages, including the eyelids and digits. Mutations in these genes disrupt the normal development process, leading to the characteristic features of the syndrome.

Clinical Features

The most distinctive feature of Cryptophthalmos-syndactyly syndrome is the presence of cryptophthalmos, where the eyelids are fused together, preventing the eyes from being seen. This can lead to severe visual impairment or blindness.

Syndactyly, the fusion of two or more digits, is another common feature of the syndrome. This can affect both the hands and feet, and can range from partial to complete fusion of the digits.

Other features of the syndrome can include microphthalmia (small eyes), micrognathia (small jaw), cleft palate, and renal agenesis (absence of one or both kidneys).

Diagnosis

Diagnosis of Cryptophthalmos-syndactyly syndrome is based on the presence of the characteristic clinical features. Genetic testing can confirm the diagnosis by identifying mutations in the FRAS1, FREM2, or GRIP1 genes.

Treatment

Treatment for Cryptophthalmos-syndactyly syndrome is symptomatic and supportive. This can include surgical correction of the eyelids and digits, as well as management of any associated conditions such as renal agenesis.

Prognosis

The prognosis for individuals with Cryptophthalmos-syndactyly syndrome varies depending on the severity of the symptoms and the presence of associated conditions. With appropriate management, individuals with the syndrome can lead fulfilling lives.

See Also

• Cryptophthalmos
• Syndactyly
• Fraser syndrome
• Genetic disorders

NIH genetic and rare disease info

• NIH info on Cryptophthalmos-syndactyly syndrome

Cryptophthalmos-syndactyly syndrome is a rare disease.

Cryptophthalmos-syndactyly syndrome Resources
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