Preferred Label : Frontometaphyseal dysplasia;
ICD-11 definition : Fronto-metaphyseal dysplasia is a rare craniotubular bone disorder characterized 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.;
Origin ID : 1767187670;
Automatic exact mappings (from CISMeF team)
Fronto-metaphyseal dysplasia is a rare craniotubular bone disorder characterized 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.
