MED13L syndrome
ICD-10 Q87.85 is a billable code used to indicate a diagnosis of med13l syndrome.
MED13L syndrome is a rare genetic disorder characterized by a range of congenital malformations and developmental delays. It is caused by mutations in the MED13L gene, which plays a crucial role in the regulation of gene expression during embryonic development. Patients with MED13L syndrome often present with distinctive facial features, including a broad forehead, downturned corners of the mouth, and a prominent chin. Congenital malformations associated with this syndrome may include cardiac defects, skeletal abnormalities, and issues with the skin, such as congenital nevi or other skin lesions. Additionally, patients may exhibit abnormalities in the breast, spleen, and adrenal glands, leading to further complications. The severity and combination of these malformations can vary significantly among affected individuals, necessitating a multidisciplinary approach to management and care. Early diagnosis and intervention are critical for improving outcomes and addressing the various health challenges associated with this syndrome.
Detailed records of growth and development, including milestones and any observed congenital anomalies.
Assessment of a newborn with multiple congenital anomalies, follow-up visits for developmental delays.
Ensure accurate coding of all congenital conditions and associated complications, as well as ongoing developmental assessments.
Comprehensive genetic testing results, family history, and detailed descriptions of phenotypic features.
Genetic counseling sessions for families with a history of congenital anomalies, diagnosis confirmation through genetic testing.
Consider the implications of genetic findings on family planning and the need for potential referrals to specialists.
Used in the diagnosis of MED13L syndrome.
Documentation of clinical indications for genetic testing.
Geneticists should ensure comprehensive family history is included.
Common anomalies include congenital heart defects, skeletal abnormalities, and skin lesions. Each patient may present with a unique combination of these features.
