loading...| Preferred Name | Muenke Syndrome | |
| Synonyms |
Muenke nonsyndromic coronal craniosynostosis Syndrome of coronal craniosynostosis FGFR3-Associated Coronal Synostosis |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C537369 |
|
| altLabel |
Muenke nonsyndromic coronal craniosynostosis Syndrome of coronal craniosynostosis FGFR3-Associated Coronal Synostosis |
|
| cui |
C1864436 |
|
| HM |
D003398 |
|
| Inverse of RB |
0 |
|
| Mapped to | ||
| MDA |
20100825 |
|
| MeSH Frequency |
45 |
|
| MMR |
20150818 |
|
| notation |
C537369 |
|
| prefLabel |
Muenke Syndrome |
|
| SC |
3 |
|
| Scope Statement |
A hereditary autosomal dominant disorder characterized by uni- or bicoronal synostosis (craniosyostoses), MACROCEPHALY, midfacial hypoplasia, and DEVELOPMENTAL DISABILITIES. Other more variable features include thimble-shaped middle phalanges, BRACHYDACTYLY, carpal/tarsal fusion, and DEAFNESS. The phenotype is variable and can range from no detectable clinical manifestations to complex findings. This disorder is caused by a mutation (P250R) in the FGFR3 gene. OMIM: 602849 |
|
| TERMUI |
T742360 T742361 T742362 T846123 |
|
| TH |
OMIM (2013) GHR (2014) ORD (2010) |
|
| tui |
T047 |