Autoszomális domináns
Caused by loss of function of one copy of EFTUD2, which encodes a core component of the spliceosome, the machinery that processes RNA. Most cases arise de novo, but inheritance from a mildly affected parent occurs.
Tünetek és jelek
Underdeveloped cheekbones and jaw, differences in the shape of the outer ears, and microcephaly, with developmental delay and learning difficulties. Hearing loss, usually conductive, is common, as are cleft palate and breathing problems linked to the small jaw. Less often there is choanal atresia, oesophageal atresia, heart defects, thumb differences or seizures.
Mit változtat a diagnózis
Airway and feeding support in infancy, hearing assessment and aids, craniofacial and cleft surgery, and developmental support. Most cases arise de novo, but a parent can carry the change, sometimes mildly affected, so genetic counselling and parental testing guide recurrence risk.
Vizsgált gének
Más néven
Growth and mental retardation, mandibulofacial dysostosis, microcephaly, and cleft palate; Growth delay - intellectual disability - mandibulofacial dysostosis - microcephaly - cleft palate; Growth delay-intellectual disability-mandibulofacial dysostosis-microcephaly-cleft palate syndrome; mandibulofacial dysostosis, Guion-Almeida type; MFDGA; MFDM; MFDM syndrome
