Preferred Label : Osteoglophonic dysplasia;
ICD-11 definition : Osteoglophonic dwarfism is a skeletal dysplasia characterized by dwarfism, severe
craniofacial abnormalities and multiple unerupted teeth. Main clinical features include
craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism,
midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs,
short and broad hands and fingers, and flat feet.;
Origin ID : 1427874962;
Automatic exact mappings (from CISMeF team)
Osteoglophonic dwarfism is a skeletal dysplasia characterized by dwarfism, severe
craniofacial abnormalities and multiple unerupted teeth. Main clinical features include
craniosynostosis, acrocephaly, a prominent forehead, depressed nasal bridge, hypertelorism,
midface hypoplasia, macroglossia, unerupted teeth, short neck, short and bowed limbs,
short and broad hands and fingers, and flat feet.