Dentin dysplasia-sclerotic bones syndrome- MedGen UID:
- 377618
- •Concept ID:
- C1852201
- •
- Disease or Syndrome
Dentin dysplasia-sclerotic bones syndrome is a rare, genetic odontologic disease characterized by the clinical, radiographic, and histologic features of dentine dysplasia and osteosclerosis of all long bones, with heavy cortical bone and narrowed or occluded marrow spaces. There have been no further descriptions in the literature since 1977.
Craniodiaphyseal dysplasia, autosomal dominant- MedGen UID:
- 382678
- •Concept ID:
- C2675746
- •
- Disease or Syndrome
Craniodiaphyseal dysplasia (CDD) is a severe bone dysplasia characterized by massive generalized hyperostosis and sclerosis, especially involving the skull and facial bones. Progressive bony encroachment upon cranial foramina leads to severe neurologic impairment in childhood (summary by Brueton and Winter, 1990). The sclerosis is so severe that the resulting facial distortion is referred to as 'leontiasis ossea' (leonine facies), and the bone deposition results in progressive stenosis of craniofacial foramina (summary by Kim et al., 2011).
Osteopetrosis, autosomal recessive 9- MedGen UID:
- 1841123
- •Concept ID:
- C5830487
- •
- Disease or Syndrome
Autosomal recessive osteopetrosis-9 (OPTB9) is characterized by increased bone density and bone fragility, as well as renal failure. Vision may be compromised due to compression of the optic nerve secondary to osteopetrotic stenosis of the optic nerve canal (Xue et al., 2022).
For a general phenotypic description and discussion of genetic heterogeneity of autosomal recessive osteopetrosis, see OPTB1 (259700).