postaxial acrofacial dysostosis

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postaxial acrofacial dysostosis2016-11-27T20:14:50+00:00

postaxial acrofacial dysostosis 

EMBRYOLOGY

Definition An über rare–± 30 cases in the world literature–autosomal recessive condition (OMIM:263750) characterised by severe micrognathia, cleft lip and/or palate, hypoplasia or aplasia of the posterior elements of the limbs, coloboma of the eyelids and supernumerary nipples.

Molecular pathology Defects of DHODH, which encodes dihydroorotate dehydrogenase, an enzyme that catalyses the fourth step in pyrimidine synthesis, cause postaxial acrofacial dysostosis. 

Synonyms Genee-Wiedemann syndrome, Miller syndrome, POADS syndrome

References http://www.uniprot.org/uniprot/Q02127 

http://www.omim.org/entry/263750

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