Bent bone dysplasias (Q46624)
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Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | LD24.C |
||
| English | Bent bone dysplasias |
Any syndromes are characterised by poor mineralization of the skull, craniosynostosis, hypoplastic pubis and clavicles, osteopenia, bent long bones, low-set ears, hypertelorism, midface hypoplasia, prematurely erupted fetal teeth, and micrognathia. These syndromes may be associated with mutation of the FGFR2 gene. |
