Miller syndrome

Autosomal recessive - en

Miller syndrome, also known as Genitopatellar syndrome, is a rare genetic disorder characterized by distinctive craniofacial, limb, and genital abnormalities. It is inherited in an autosomal recessive manner and is caused by mutations in the DHODH gene.

Signs and Symptoms

Individuals with Miller syndrome typically present with a range of physical abnormalities, including:

• Craniofacial abnormalities such as micrognathia (small jaw), malar hypoplasia (underdeveloped cheekbones), and cleft palate.
• Limb abnormalities, including syndactyly (webbed fingers or toes), oligodactyly (fewer than five fingers or toes), and hypoplasia of the ulna and radius.
• Genital abnormalities, which may include cryptorchidism (undescended testes) in males and other genital malformations.

Genetics

Miller syndrome is caused by mutations in the DHODH gene, which encodes the enzyme dihydroorotate dehydrogenase. This enzyme is involved in the pyrimidine biosynthesis pathway, which is essential for the production of DNA and RNA. The disorder follows an autosomal recessive inheritance pattern, meaning that an individual must inherit two copies of the mutated gene, one from each parent, to be affected.

Diagnosis

The diagnosis of Miller syndrome is based on clinical evaluation, identification of characteristic physical features, and genetic testing to confirm mutations in the DHODH gene. Prenatal diagnosis may be possible through amniocentesis or chorionic villus sampling if there is a known family history of the disorder.

Treatment

There is no cure for Miller syndrome, and treatment is primarily supportive and symptomatic. Management may include:

• Surgical correction of craniofacial and limb abnormalities.
• Speech therapy for individuals with cleft palate.
• Hormonal or surgical treatment for genital abnormalities.
• Regular monitoring and supportive care to address any additional health issues.

Prognosis

The prognosis for individuals with Miller syndrome varies depending on the severity of the symptoms and the presence of any associated health issues. With appropriate medical care and supportive therapies, many individuals can lead relatively normal lives.

See Also

• Genetic disorder
• Autosomal recessive inheritance
• Craniofacial abnormalities
• Syndactyly
• DHODH

External Links

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