| Metadata | |
|---|---|
| ID | DOID:0111782 |
| Name | otopalatodigital syndrome spectrum disorder |
| Definition | A bone development disease characterized by typical facial anomalies and a generalized bone dysplasia with osteodysplastic changes with skeletal dysplasia developing as varying combinations and degrees of undertubulation of the long bones, cortical irregularity and campomelia. Most but not all subtypes are associated with mutations in FLNA on chromosome Xq28. https://www.ncbi.nlm.nih.gov/pubmed/16926860, https://www.ncbi.nlm.nih.gov/pubmed/10706363, https://www.ncbi.nlm.nih.gov/pubmed/20301567 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
fronto-otopalatodigital osteodysplasia [EXACT] OPD spectrum disorder [EXACT] OPSD [EXACT] |
| Parent Relationships |