Autoszomális recesszív
Raine syndrome, also called lethal osteosclerotic bone dysplasia, is caused by changes in FAM20C, an enzyme that adds phosphate to proteins controlling bone and tooth mineralisation and phosphate balance.
Tünetek és jelek
In the classic form, babies have generalised dense bones, characteristic facial dysmorphisms and calcifications in the brain. This classic form is lethal. Milder, non-lethal forms have been described with dense bones or rickets, low blood phosphate, and sometimes intellectual disability.
Mit változtat a diagnózis
Care depends on severity: survivors may need monitoring of phosphate levels and developmental care. Genetic counselling is recommended; carrier and prenatal testing can be offered.
Vizsgált gének
Más néven
combination of microcephaly, exophthalmos, hypoplastic nose and midface, gum hyperplasia, cleft palate, apparently low-set ears, and osteosclerosis; osteomalacia, sclerosing, with cerebral calcification; osteosclerotic bone dysplasia, lethal; RNS
