Macrocephaly pigmentation large hands feet

Macrocephaly Pigmentation Large Hands Feet Syndrome (MPLHS), also known as Macrocephaly-Cutis Marmorata Telangiectatica Congenita Syndrome, is a rare genetic disorder characterized by an abnormally large head (Macrocephaly), a distinctive skin condition (Cutis Marmorata Telangiectatica Congenita), and unusually large hands and feet. This condition falls under the broader category of overgrowth syndromes, which are disorders that lead to the excessive growth of various body parts.

Symptoms and Characteristics

The primary features of MPLHS include:

• Macrocephaly: An unusually large head circumference that is significantly above the norm for an individual's age and sex.
• Cutis Marmorata Telangiectatica Congenita (CMTC): A vascular anomaly presenting as a net-like pattern of bluish-purple skin discoloration.
• Large Hands and Feet: Disproportionately large hands and feet compared to the rest of the body.
• Additional symptoms may include developmental delays, intellectual disability, and other neurological issues. However, the presence and severity of these symptoms can vary widely among individuals with MPLHS.

Causes

The exact cause of Macrocephaly Pigmentation Large Hands Feet Syndrome is currently unknown. It is believed to be genetic in nature, possibly resulting from mutations in specific genes, but the precise genetic mechanisms have yet to be identified. Research into the genetic basis of MPLHS is ongoing, with the hope of better understanding the syndrome and improving diagnosis and treatment.

Diagnosis

Diagnosis of MPLHS is primarily based on the physical characteristics and symptoms presented by the individual. Medical history and a physical examination are crucial. Imaging tests, such as MRI or CT scans, may be used to assess macrocephaly and any associated brain abnormalities. Genetic testing may also be conducted to rule out other conditions with similar features.

Treatment

There is no cure for Macrocephaly Pigmentation Large Hands Feet Syndrome, and treatment is symptomatic and supportive. Management strategies may include:

• Regular monitoring of head growth and neurological status.
• Physical therapy and occupational therapy to support motor skills and daily functioning.
• Educational support for those with developmental delays or intellectual disabilities.
• Consultation with a dermatologist for skin-related symptoms.

Prognosis

The prognosis for individuals with MPLHS varies depending on the presence and severity of associated symptoms, particularly neurological involvement. With appropriate management and supportive care, many individuals with MPLHS can lead active and fulfilling lives.

See Also

• Genetic disorder
• Overgrowth syndrome
• Cutis Marmorata
• Telangiectasia
• Macrocephaly

Resources

Latest articles - Macrocephaly pigmentation large hands feet

• Most recent articles
• Ongoing trials

Source: Data courtesy of the U.S. National Library of Medicine. Since the data might have changed, please query MeSH on Macrocephaly pigmentation large hands feet for any updates.

‎