loading...| Preferred Name |
Muenke syndrome |
|
| Synonyms |
Muenke syndrome (disorder) |
|
| Definitions |
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant. |
|
| ID |
http://purl.bioontology.org/ontology/SNOMEDCT/787407003 |
|
| Active |
1 |
|
| altLabel |
Muenke syndrome (disorder) |
|
| CASE SIGNIFICANCE ID |
900000000000017005 |
|
| CTV3ID |
XVAwk |
|
| cui |
C1864436 |
|
| definition |
A syndromic craniosynostosis with a wide range of clinical findings even within a single family. Most have coronal synostosis however synostosis of other sutures, all sutures, macrocephaly without craniosynostosis, or a normal skull may be observed. Bilateral coronal synostosis usually results in brachycephaly with temporal bossing and facial symmetry. Craniofacial findings include widely spaced eyes, ptosis or proptosis, strabismus, and high arched palate or cleft lip/palate. Over 70% of patients have some form of hearing loss. Additional extracranial manifestations include otitis media, brachydactyly, broad toes, broad thumbs, clinodactyly, developmental delay and intellectual disability. Caused by mutation in the FGFR3 gene (4p16.3), encoding fibroblast growth factor receptor 3, which is required for normal skeleton development. Inheritance is autosomal dominant. |
|
| DEFINITION STATUS ID |
900000000000074008 |
|
| Effective time |
20190731 |
|
| Has associated morphology | ||
| Has finding site | ||
| Has pathological process | ||
| notation |
787407003 |
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| Occurs in | ||
| prefLabel |
Muenke syndrome |
|
| Subset member |
447562003~MAPRULE~TRUE 6011000124106~MAPGROUP~1 6011000124106~MAPTARGET~Q75.0 447562003~MAPGROUP~1 447562003~CORRELATIONID~447561005 6011000124106~MAPTARGET~Q75.009 6011000124106~MAPCATEGORYID~447637006 900000000000509007~ACCEPTABILITYID~900000000000548007 900000000000497000~MAPTARGET~XVAwk 900000000000508004~ACCEPTABILITYID~900000000000548007 447562003~MAPPRIORITY~1 6011000124106~MAPADVICE~ALWAYS Q75.0 447562003~MAPCATEGORYID~447637006 6011000124106~MAPADVICE~ALWAYS Q75.009 6011000124106~MAPPRIORITY~1 6011000124106~CORRELATIONID~447561005 447562003~MAPADVICE~ALWAYS Q87.0 | POSSIBLE REQUIREMENT FOR ADDITIONAL CODE TO FULLY DESCRIBE DISEASE OR CONDITION 6011000124106~MAPRULE~TRUE 447562003~MAPTARGET~Q87.0 |
|
| tui |
T047 |
|
| Type ID |
900000000000003001 900000000000013009 |
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| subClassOf |
http://purl.bioontology.org/ontology/SNOMEDCT/363070008 http://purl.bioontology.org/ontology/SNOMEDCT/11164009 http://purl.bioontology.org/ontology/SNOMEDCT/440350001 |