Autoszomális domináns · 16 affected individuals have been reported.
Caused by a recurrent change in one copy of the COG4 gene, part of a complex that moves proteins through the Golgi apparatus inside cells. The change alters protein function rather than switching the gene off, and almost all cases arise de novo.
Tünetek és jelek
Short stature becomes clear in infancy, with a prominent forehead, a small lower jaw, and changes in the spine and long bones. Short fingers and toes, and often clubfoot, are reported. Intelligence is usually typical. Less often there are cataracts, retinal changes, hearing loss or instability of the upper neck bones.
Mit változtat a diagnózis
Care includes orthopaedic follow-up, assessment for instability of the upper neck bones (avoiding gymnastics and trampolining until it is excluded), and regular eye and hearing checks. Cases are typically de novo, but genetic counselling and parental testing help clarify recurrence risk.
Vizsgált gének
Más néven
microcephalic osteodysplastic dysplasia; SWILS
