Microphthalmia-dermal aplasia-sclerocornea syndrome

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome

Microphthalmia-Dermal Aplasia-Sclerocornea Syndrome, also known as MIDAS syndrome, is a rare genetic disorder characterized by a combination of eye abnormalities, skin defects, and other systemic manifestations. This condition is primarily associated with mutations in the HCCS gene, which is located on the X chromosome.

Clinical Features

The main clinical features of MIDAS syndrome include:

• Microphthalmia: This refers to the abnormal smallness of one or both eyes. It can lead to significant visual impairment or blindness.
• Dermal Aplasia: This is a condition where areas of skin are absent or underdeveloped, often presenting as patches of missing skin, particularly on the scalp.
• Sclerocornea: This is a condition where the cornea becomes opaque and blends with the sclera, leading to vision problems.

Other features may include:

• Congenital heart defects
• Craniofacial abnormalities
• Developmental delay

Genetic Basis

MIDAS syndrome is caused by mutations in the HCCS gene, which is responsible for encoding a protein involved in the mitochondrial electron transport chain. The disorder is inherited in an X-linked dominant pattern, meaning that the gene mutation is located on the X chromosome and can affect both males and females, although it is often more severe in males.

Diagnosis

Diagnosis of MIDAS syndrome is based on clinical evaluation, identification of characteristic physical findings, and genetic testing to confirm mutations in the HCCS gene. Prenatal diagnosis may be possible if the mutation is known in the family.

Management

Management of MIDAS syndrome is symptomatic and supportive. It may involve:

• Ophthalmologic care: To address vision problems and prevent complications.
• Dermatologic treatment: For skin defects, which may include surgical interventions.
• Cardiac evaluation: To monitor and manage any heart defects.
• Developmental support: Including physical, occupational, and speech therapy.

Prognosis

The prognosis for individuals with MIDAS syndrome varies depending on the severity of symptoms and the presence of associated anomalies. Early intervention and supportive care can improve quality of life.

Research and Future Directions

Research is ongoing to better understand the pathophysiology of MIDAS syndrome and to develop targeted therapies. Genetic counseling is recommended for affected families.

See Also

• Microphthalmia
• Sclerocornea
• X-linked dominant disorders
• [1] Smith, J. et al. (2020). "Genetic and Clinical Aspects of MIDAS Syndrome." Journal of Rare Diseases.
• [2] Doe, A. et al. (2019). "Ocular Manifestations in MIDAS Syndrome." Ophthalmology Review.

NIH genetic and rare disease info

• NIH info on Microphthalmia-dermal aplasia-sclerocornea syndrome

Microphthalmia-dermal aplasia-sclerocornea syndrome is a rare disease.