Hearing Loss Disease Portal


 
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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes
Disease Browser
Parent Node:
expandCraniosynostoses (D003398)
..Starting node
..expandMuenke Syndrome (C537369)

       Child Nodes:



 Sister Nodes: 
..expandAcrocephalosyndactylia (D000168) Child11
..expandAurocephalosyndactyly (C566235)
..expandBaraitser Rodeck Garner syndrome (C537906)
..expandBohring syndrome (C537419)
..expandC SYNDROME (OMIM:211750)
..expandCalabro syndrome (C537960)
..expandCole Carpenter syndrome (C535963)
..expandCranioectodermal Dysplasia (C562966) Child1
..expandCraniometaphyseal dysplasia, autosomal recessive type (C536570)
..expandCraniosynostosis Mental Retardation Clefting Syndrome (C565663)
..expandCraniosynostosis Microcephaly with Chromosomal Breakage and Other Abnormalities (C565667)
..expandCraniosynostosis radial aplasia syndrome (C536788)
..expandCraniosynostosis Syndrome, Autosomal Recessive (C564700)
..expandCraniosynostosis with Anomalies of the Cranial Base and Digits (C565666)
..expandCraniosynostosis with Ectopia Lentis (C566357)
..expandCraniosynostosis with Fibular Aplasia (C565665)
..expandCraniosynostosis with Ocular Abnormalities and Hallucal Defects (C564263)
..expandCraniosynostosis, Adelaide Type (C563471)
..expandCraniosynostosis, anal anomalies, and porokeratosis (C536789)
..expandCraniosynostosis, Calcification of Basal Ganglia, and Facial Dysmorphism (C564241)
..expandCraniosynostosis, Philadelphia Type (C563368)
..expandCraniosynostosis, sagittal, with Dandy-Walker malformation and hydrocephalus (C536790)
..expandCraniosynostosis, Type 2 (C565753)
..expandCraniosynostosis-Mental Retardation Syndrome of Lin and Gettig (C565664)
..expandCraniotelencephalic dysplasia (C535597)
..expandCutis Gyrata Syndrome of Beare And Stevenson (C565129)
..expandFine-Lubinsky syndrome (C537933)
..expandFRONTONASAL DYSPLASIA 2 (OMIM:613451)
..expandFurlong syndrome (C538192)
..expandGenoa syndrome (C537684)
..expandHordnes Engebretsen Knudtson syndrome (C536067)
..expandHunter-McAlpine syndrome (C536072)
..expandIida Kannari syndrome (C536284)
..expandJackson-Weiss syndrome (C537559)
..expandKleeblattschaedel syndrome (C536884)
..expandLowry Maclean syndrome (C537037)
..expandMehta Lewis Patton syndrome (C536147)
..expandMuenke Syndrome (C537369)
..expandOculopalatoskeletal syndrome (C537738)
..expandOpitz trigonocephaly syndrome (C537418)
..expandPfeiffer Tietze Welte syndrome (C537891)
..expandPiepkorn Karp Hickok syndrome (C535774)
..expandPlagiocephaly and X-linked mental retardation (C537512)
..expandPolycystic Kidney Disease, Potter Type I, with Microbrachycephaly, Hypertelorism, and Brachymelia (C564881)
..expandScaphocephaly, Maxillary Retrusion, And Mental Retardation (C566511)
..expandShprintzen Golberg craniosynostosis (C537328)
..expandSkeletal dysplasia, San Diego type (C536670)
..expandSpondyloepiphyseal Dysplasia With Coronal Craniosynostosis, Cataracts, Cleft Palate, And Mental Retardation (C566515)
..expandTrigonobrachycephaly, Bulbous Bifid Nose, Micrognathia, and Abnormalities of the Hands and Feet (C564759)
..expandTRIGONOCEPHALY 1 (OMIM:190440)
..expandTrigonocephaly, Nonsyndromic (C562951)
..expandWarman Mulliken Hayward syndrome (C536684)
   

Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM, CTD
Term ID:7441
Name:Muenke Syndrome
Definition:
Alternative IDs:OMIM:602849
ParentIDs:MESH:D003398
TreeNumbers:C05.116.099.370.894.232/C537369 |C05.660.207.240/C537369 |C05.660.207.707.249/C537369 |C05.660.906.364/C537369 |C16.131.621.207.240/C537369 |C16.131.621.207.707.249/C537369 |C16.131.621.906.364/C537369
Synonyms:FGFR3-Associated Coronal Synostosis |MNKES |Muenke nonsyndromic coronal craniosynostosis |Syndrome of coronal craniosynostosis
Slim Mappings:Congenital abnormality|Musculoskeletal disease
Reference: MedGen: C537369
MeSH: C537369
OMIM: 602849;

Genes: FGFR3;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0000248Brachycephaly
3 HP:0001156Brachydactyly
4 HP:0010055Broad hallux
5 HP:0001241Capitate-hamate fusion
6 HP:0030084Clinodactyly
7 HP:0010230Cone-shaped epiphyses of the phalanges of the hand
8 HP:0004440Coronal craniosynostosis
9 HP:0000494Downslanted palpebral fissures
10 HP:0001263Global developmental delay
11 HP:0000218High palate
12 HP:0000316Hypertelorism
13 HP:0001249Intellectual disability
14 HP:0000294Low anterior hairline
15 HP:0000256Macrocephaly
16 HP:0000272Malar flattening
17 HP:0011800Midface retrusion
18 HP:0001357Plagiocephaly
19 HP:0000508Ptosis
20 HP:0009466Radial deviation of finger
21 HP:0000407Sensorineural hearing impairment
22 HP:0005819Short middle phalanx of finger
23 HP:0003795Short middle phalanx of toe
24 HP:0006193Thimble-shaped middle phalanges of hand
Disease Causing ClinVar Variants