Autozomálně recesivní
Caused by changes in both copies of INPPL1, which encodes SHIP2, an enzyme that regulates a cell-signalling lipid. Loss of the enzyme disturbs growth-plate development.
Příznaky a projevy
Short limbs, small hands and feet, and a large head with a prominent forehead and flat nasal bridge are seen at or soon after birth, with markedly delayed bone age on X-ray. Flattened vertebrae and delayed gross motor skills are common. Less often there are breathing problems from a narrow chest, and some have kidney phosphate wasting.
Co se diagnózou změní
Care involves skeletal and respiratory follow-up, orthopaedic support and monitoring of blood phosphate. Both parents are usually carriers, so genetic counselling and carrier testing for relatives are offered.
Analyzované geny
Známé také jako
OPSMD
