Catalog

Frontometaphyseal dysplasia

No MMS code

Link to WHO Definition

Frontometaphyseal dysplasia – http://id.who.int/icd/entity/1767187670

Fronto-metaphyseal dysplasia is a rare craniotubular bone disorder characterised by a characteristic face (with prominent supraorbital ridges, hypertelorism, downslanted palpebral fissures, broad nasal bridge, and micrognathia with anomalies of teeth) and skeletal anomalies (fusion of carpal bones, increased density of long bone diaphyses, flared metaphyses and scoliosis). In addition, restricted joint mobility with contractures in the digits or hearing loss may sometimes be present. More rarely, respiratory problems (sub-glottic stenosis or recurrent infection) and urologic abnormalities are associated.