Autozomálně recesivní
Caused by changes in both copies of the DHODH gene, which makes an enzyme needed to produce pyrimidines, building blocks of DNA and RNA. Reduced enzyme activity affects the rapidly growing tissues of the developing face and limbs.
Příznaky a projevy
Underdeveloped cheekbones and lower jaw, downslanting eyes with outward-turned lower eyelids, cleft lip or palate, and small cup-shaped ears, some with hearing loss. Missing or underdeveloped fifth fingers and toes and underdeveloped forearm bones are common. Less often there are heart abnormalities, extra nipples, or webbed or fused fingers or toes; speech can be delayed when hearing loss is present.
Co se diagnózou změní
Care from a craniofacial team, including airway and feeding support, cleft and jaw surgery, eye care and hearing assessment. Parents of an affected child are usually both carriers, so genetic counselling and carrier testing can be offered.
Analyzované geny
Známé také jako
Genee-Wiedemann acrofacial dysostosis; GWAFD; Miller Syndrome; POADS; POADS syndrome; postaxial acrodysostosis; postaxial acrofacial dysostosis (POADS) syndrome; Wildervanck-Smith syndrome
