Cleidocranial dysplasia
| Disorder | |
|---|---|
| OMIM #: | #119600 (Click to access OMIM database) |
| Disorder: | Cleidocranial dysplasia |
| Also known as: | CCD CLEIDOCRANIAL DYSOSTOSIS (CLCD) |
| Clinical | |
| Phenotype: | short stature, delayed closure of fontanelles, frontal bossing, metopic groove, hypertelorism, midfacial hypoplasia, low nasal bridge, cleft palate, high-arched palate, micrognathia, late eruption of teeth, other teeth anomalies, narrow thorax, hypoplastic clavicles, short ribs, small scapula, wormian bones, cranial irregularities, sinus irregularities, vertebral defects, syringomyelia, wide pubic symphysis, other pubic defects, brachydactyly, other metacarpal and phalangeal defects |
| Seen In: |
Amish Old Order Mennonite Old Colony Mennonite Unknown/Other Mennonite Hutterite |
| Remarks: | Autosomal dominant |
| Mutations | |
| 1 Unknown / Other Mennonite | |
| Gene: | RUNX2 |
| Base Change: | A>G, at nucleotide 598 |
| Amino Acid Change: | thr 200 --> ala |
| Last updated: | 2022-11-03 |
| References |
|---|
| Zhou G, Chen Y, Zhou L, Thirunavukkarasu K, Hecht J, Chitayat D, Gelb BD, Pirinen S, Berry SA, Greenberg CR, Karsenty G, Lee B. (1999) CBFA1 mutation analysis and functional correlation with phenotypic variability in cleidocranial dysplasia. Hum Mol Genet 8(12):2311-6. PubMed ID: 10545612 |
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