Autoszomális recesszív
Caused by changes in both copies of the C2CD3 gene, which is needed to build cilia, tiny structures on cells involved in signalling during development.
Tünetek és jelek
Mouth, face and finger or toe differences, as seen in orofaciodigital syndromes. Some people have a small head size and brain malformations.
Mit változtat a diagnózis
Care includes cleft and oral surgery, hand and foot surgery where needed, and developmental, feeding and seizure care. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
Más néven
C2CD3 orofaciodigital syndrome; microcephaly-cerebral malformation-orofaciodigital syndrome; OFD14; oral-facial-digital syndrome type 14; orofaciodigital syndrome caused by mutation in C2CD3; orofaciodigital syndrome XIV
