Miller syndrome

Miller syndrome
Synonyms	Mandibulfacial dysostosis with postaxial limb anomalies
this condition is inherited in an autosomal recessive manner
Classification and external resources
ICD-10	Q75.4
OMIM	263750
Orphanet	246
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Miller syndrome is a genetic condition also known as the Genee–Wiedemann syndrome, Wildervanck–Smith syndrome, or postaxial acrofacial dystosis. The incidence of this condition is not known, but it is considered extremely rare. It is due to a mutation in the DHODH gene. Nothing is known of its pathogenesis.

The syndrome consists of severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the postaxial elements of the limbs, coloboma of the eyelids, and supernumerary nipples. Additional features of the syndrome include downward-slanting palpebral fissures, malar hypoplasia, malformed ears, and a broad nasal ridge. Other features include supernumerary vertebrae and other vertebral segmentation and rib defects, heart defects (patent ductus arteriosus, ventricular septal defect and Ostium primum atrial septal defect), lung disease from chronic infection, single umbilical artery, absence of the hemidiaphragm, hypoplasia of the femora, ossification defects of the ischium and pubis, bilobed tongue, lung hypoplasia, and renal reflux.

The gene responsible for this disorder is DHODH located at chromosome 16q22. This gene encodes an enzyme – dihydroorotate dehydrogenase – which catalyses the ubiquinone-mediated oxidation of dihydroorotate to orotate, the fourth enzymatic step in de novo pyrimidine biosynthesis. The protein is normally located on the outer surface of the inner membrane.

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