5 articles
Craniodiaphyseal dysplasia
Craniodiaphyseal dysplasia (Lionitis, ORPHA:1513) is an ultra-rare sclerosing bone dysplasia with massive skull and facial hyperostosis, SOST or SP7 genetic forms, childhood onset, and cranial nerve compression causing blindness, deafness, and early death.
Craniometadiaphyseal dysplasia, wormian bone type
Craniometadiaphyseal dysplasia, wormian bone type (CRMDD, OMIM 269300, ORPHA:85184) is an extremely rare autosomal recessive craniotubular bone dysplasia, under 10 reported patients, with macrocephaly, multiple wormian bones, wide tubular bones, and fracture risk.
Craniotubular dysplasia, Ikegawa type
Craniotubular dysplasia, Ikegawa type (CTDI, OMIM 619727) is an ultra-rare autosomal recessive sclerosing bone disorder caused by TMEM53 variants, with skull hyperostosis, short stature, and vision loss from optic nerve compression.
Frontometaphyseal dysplasia
Frontometaphyseal dysplasia (FMD, ORPHA:1826) is a rare congenital skeletal dysplasia with supraorbital hyperostosis, hand contractures, scoliosis, and hearing loss; caused by gain-of-function FLNA (X-linked) or MAP3K7/TAB2 (autosomal dominant) mutations.
Osteoglosphonic dysplasia
Osteoglosphonic dysplasia (osteoglophonic dysplasia, OGD, Fairbank-Keats syndrome) is a rare autosomal dominant FGFR1 skeletal dysplasia with craniosynostosis, unerupted teeth, rhizomelic short stature, and non-ossifying fibromas; about 24 cases reported.