Macrocephaly cutis marmorata telangiectatica

Macrocephaly Cutis Marmorata Telangiectatica

Macrocephaly Cutis Marmorata Telangiectatica (M-CMTC) is a rare congenital disorder characterized by a distinctive combination of physical abnormalities. It is primarily noted for macrocephaly, cutis marmorata, and telangiectasia.

Clinical Features

M-CMTC is a syndrome that presents with a variety of clinical features, which can vary significantly among affected individuals. The primary features include:

• Macrocephaly: An abnormally large head size, often present at birth or developing in early infancy. This is one of the hallmark features of the syndrome.

• Cutis Marmorata: A condition where the skin has a marbled or mottled appearance due to underlying vascular anomalies. This is often more pronounced in cold environments.

• Telangiectasia: Small, dilated blood vessels near the surface of the skin, which can contribute to the mottled appearance.

Additional features may include:

• Developmental Delay: Some children with M-CMTC may experience delays in reaching developmental milestones.

• Asymmetry: There may be asymmetrical growth of the body, with one side being larger than the other.

• Syndactyly or Polydactyly: Some individuals may have webbed or extra fingers or toes.

• Hypotonia: Reduced muscle tone, which can affect motor skills.

Etiology

The exact cause of M-CMTC is not well understood. It is believed to be a genetic disorder, but the specific genetic mutations involved have not been definitively identified. Some cases may occur sporadically, with no family history of the condition.

Diagnosis

Diagnosis of M-CMTC is primarily clinical, based on the characteristic features observed in the patient. Genetic testing may be used to rule out other conditions with overlapping symptoms. Imaging studies, such as MRI or CT scan, may be used to assess brain structure and identify any associated anomalies.

Management

There is no cure for M-CMTC, and treatment is symptomatic and supportive. Management strategies may include:

• Physical Therapy: To address developmental delays and improve motor skills.

• Occupational Therapy: To assist with daily living activities and enhance fine motor skills.

• Regular Monitoring: Ongoing assessment by a multidisciplinary team to monitor growth, development, and any emerging complications.

Prognosis

The prognosis for individuals with M-CMTC varies widely depending on the severity of symptoms and the presence of any associated complications. With appropriate management and support, many individuals can lead fulfilling lives.

Also see

• Macrocephaly
• Cutis Marmorata
• Telangiectasia
• Congenital Disorders
• Developmental Delay