loading...| Preferred Name |
Muenke Syndrome |
| Synonyms |
Syndrome of coronal craniosynostosis |
| ID |
http://purl.bioontology.org/ontology/MESH/C537369 |
| altLabel |
Syndrome of coronal craniosynostosis Muenke nonsyndromic 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 |
T846123 T742361 T742362 T742360 |
| TH |
ORD (2010) OMIM (2013) GHR (2014) |
| tui |
T047 |