Megalocornea Intellectual Disability Syndrome

Megalocornea Intellectual Disability Syndrome is a rare genetic disorder characterized by the presence of abnormally large corneas (megalocornea) and intellectual disability. It is also known as Megalocornea Mental Retardation Syndrome or Megalocornea-Mental Retardation Syndrome.

Clinical Features

Individuals with Megalocornea Intellectual Disability Syndrome typically have corneas that are larger than normal, which can be detected during a routine eye examination. The size of the corneas does not usually affect vision, but it may lead to other eye problems such as glaucoma or cataracts. Intellectual disability is another prominent feature of this syndrome, with affected individuals experiencing varying degrees of cognitive impairment.

Other Symptoms

In addition to megalocornea and intellectual disability, individuals with this syndrome may exhibit other physical and developmental abnormalities. These can include:

• Delayed speech and language development


• Delayed motor milestones


• Behavioral problems


• Distinct facial features, such as a prominent forehead, wide-set eyes, and a flat nasal bridge


• Joint hypermobility


• Seizures

Genetics

Megalocornea Intellectual Disability Syndrome is primarily caused by mutations in the ADAMTS17 gene, which is located on chromosome 15. This gene provides instructions for producing an enzyme involved in the processing of proteins in the extracellular matrix. Mutations in the ADAMTS17 gene disrupt the normal function of this enzyme, leading to the characteristic features of the syndrome.

Diagnosis

The diagnosis of Megalocornea Intellectual Disability Syndrome is based on clinical evaluation, including a thorough physical examination, assessment of intellectual functioning, and ophthalmologic evaluation to confirm the presence of megalocornea. Genetic testing can be performed to identify mutations in the ADAMTS17 gene and confirm the diagnosis.

ICD-10 Code

The ICD-10 code for Megalocornea Intellectual Disability Syndrome is Q13.8. This code falls under the category of "Congenital malformations of the eye, ear, face, and neck" (Q10-Q18) and specifically represents "Other congenital malformations of anterior segment of eye."

ICD-9 Code

As of October 1, 2015, the ICD-9 code system has been replaced by ICD-10. However, for reference purposes, the ICD-9 code that was previously used for Megalocornea Intellectual Disability Syndrome is 759.89. This code falls under the category of "Other and unspecified congenital anomalies" (740-759) and specifically represents "Other specified anomalies."