Malpuech facial clefting syndrome

Malpuech facial clefting syndrome (pronunciation: mal-pwek fa-shul kleft-ing sin-drome) is a rare genetic disorder characterized by specific facial features and other physical abnormalities.

Definition

Malpuech facial clefting syndrome is a rare genetic disorder that affects the development of the face and other parts of the body. The syndrome is characterized by facial clefting, micrognathia, cleft palate, and cleft lip. Other features may include intellectual disability, growth retardation, and congenital heart defects.

Etymology

The syndrome is named after the French geneticist Michel Malpuech, who first described the condition in 1983. The term "facial clefting" refers to the characteristic facial abnormalities seen in this syndrome.

Symptoms

The most common symptoms of Malpuech facial clefting syndrome include:

• Facial clefting: This is a split or gap in the face, usually in the lip or palate.
• Micrognathia: This is a condition where the lower jaw is significantly smaller than normal.
• Cleft palate: This is a split in the roof of the mouth.
• Cleft lip: This is a split in the upper lip.
• Intellectual disability: This refers to below-average intelligence and set of life skills.
• Growth retardation: This is a slower than normal rate of growth.
• Congenital heart defects: These are problems with the heart's structure that are present at birth.

Causes

Malpuech facial clefting syndrome is caused by mutations in the COLEC11 or MASP1 genes. These genes are involved in the development of the face and other parts of the body.

Treatment

Treatment for Malpuech facial clefting syndrome typically involves surgery to correct the facial clefts and other physical abnormalities. Other treatments may include speech therapy for those with a cleft palate, and special education services for those with intellectual disabilities.

See also

• Genetic disorder
• Cleft lip and palate
• Micrognathia
• Congenital heart defect

External links

• Medical encyclopedia article on Malpuech facial clefting syndrome
• Wikipedia's article - Malpuech facial clefting syndrome

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