Autoszomális domináns
Caused by a change in one copy of SRCAP, which helps control how DNA is packaged. The causative changes are truncating variants clustered in the final exons (33 and 34) of the gene, and most arise de novo.
Tünetek és jelek
Short stature with delayed bone age, and marked delay in expressive speech and language. Distinctive facial features include a triangular face, deep-set eyes, long eyelashes, a prominent nose and thin lips. Mild intellectual disability and learning or behavioural differences are common. Less often there are kidney differences, undescended testes, hearing loss, heart differences or seizures.
Mit változtat a diagnózis
Growth monitoring, with growth hormone treatment considered in some; speech and language therapy and educational support. Assessment of kidneys, hearing, vision and teeth is recommended. Most cases arise de novo, but each child of an affected person has a 50% chance of inheriting the change, so genetic counselling is advised.
Vizsgált gének
Más néven
FHS; FLHS; Pelletier-Leisti syndrome; short stature with delayed bone age, expressive language delay, a triangular face with a prominent nose and deep-set eyes
