Miller syndrome
Miller Syndrome
Miller Syndrome (pronounced: mill-er sin-drome), also known as Postaxial Acrofacial Dysostosis (pronounced: post-axial a-cro-facial dis-tosis), is a rare genetic disorder characterized by specific abnormalities of the face and limbs. The term derives from the Latin acro (extremity) and facies (face), with the syndrome named after the geneticist James Q. Miller who first described it in 1969.
Symptoms
The primary symptoms of Miller Syndrome include underdeveloped cheekbones (Micrognathia), a very small lower jaw (Mandibular hypoplasia), cleft lip and/or palate (Cleft lip and palate), and abnormalities of the outer ears (Microtia). Limb abnormalities are also common, including missing or fused fingers or toes (Syndactyly), and forearm bones that may be underdeveloped or absent (Radial dysplasia).
Causes
Miller Syndrome is caused by mutations in the DHODH gene. This gene provides instructions for making an enzyme that is involved in the production of pyrimidines, which are building blocks of DNA. The mutations in the DHODH gene disrupt the normal development of the face and limbs before birth.
Diagnosis
Diagnosis of Miller Syndrome is typically based on a clinical evaluation, detailed patient history, and specialized tests. Genetic testing can confirm a diagnosis.
Treatment
Treatment for Miller Syndrome is symptomatic and supportive. This may include surgery to correct cleft lip and/or palate, reconstructive surgery for the jaw and ear abnormalities, and physical and occupational therapy for limb abnormalities.
See Also
- Genetic disorder
- Cleft lip and palate
- Micrognathia
- Mandibular hypoplasia
- Microtia
- Syndactyly
- Radial dysplasia
- DHODH
References
External Links
External links
- Medical encyclopedia article on Miller syndrome
- Wikipedia's article - Miller syndrome
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