Autoszomális recesszív
Caused by changes in both copies of RNU4ATAC, a small gene that does not make a protein but an RNA needed to process a minor class of gene transcripts (minor intron splicing).
Tünetek és jelek
The severe form (MOPD1, or Taybi-Linder syndrome) causes marked growth restriction, a very small head, brain malformations, skeletal changes and seizures, and can be fatal. Roifman syndrome combines growth restriction, skeletal changes, antibody deficiency, retinal changes and learning difficulties. Lowry-Wood syndrome is milder, with short stature, skeletal changes and small head size.
Mit változtat a diagnózis
Care depends on the form and includes growth, skeletal, neurological, eye and immune assessment; people with antibody deficiency may benefit from immunoglobulin replacement. Genetic counselling is recommended, and carrier testing is available for relatives.
Vizsgált gének
Más néven
RNU4atac-opathy; RNU4ATAC-related disorder
3 kapcsolódó altípust tartalmaz ↓Altípusok elrejtése ↑
- Lowry-Wood syndrome
- microcephalic osteodysplastic primordial dwarfism type I
- Roifman syndrome
