Malpuech facial clefting syndrome

Malpuech facial clefting syndrome is a rare genetic disorder characterized by specific facial features, growth retardation, intellectual disability, and other physical abnormalities. The syndrome is named after the French pediatrician who first described it in 1983, Michel Malpuech.

Symptoms and Signs

The most common symptoms of Malpuech facial clefting syndrome include cleft lip and cleft palate, micrognathia (small lower jaw), microcephaly (small head size), and hypertelorism (widely spaced eyes). Other features may include growth retardation, intellectual disability, hearing loss, and heart defects.

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. The syndrome is inherited in an autosomal recessive manner, which means both copies of the gene in each cell have mutations.

Diagnosis

Diagnosis of Malpuech facial clefting syndrome is based on the clinical features and confirmed by genetic testing. Genetic counseling is recommended for families who have a child with this syndrome.

Treatment

Treatment for Malpuech facial clefting syndrome is symptomatic and supportive. It may include surgery to repair the cleft lip and palate, speech therapy, and educational support for intellectual disability.

Prognosis

The prognosis for individuals with Malpuech facial clefting syndrome varies depending on the severity of the symptoms. With appropriate treatment and support, many individuals with this syndrome can lead a normal life.

See also

• Cleft lip and palate
• Micrognathia
• Microcephaly
• Hypertelorism
• Growth retardation
• Intellectual disability
• Hearing loss
• Heart defects
• COLEC11
• MASP1
• Autosomal recessive
• Genetic counseling

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