Muenke syndrome

Preferred Label : Muenke syndrome;

Symbol : MNKES;

CISMeF acronym : MNKES;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Muenke nonsyndromic coronal craniosynostosis;

Description : Muenke syndrome is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. 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 (summary by Abdel-Salam et al., 2011).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor 3 gene (FGFR3, 134934.0014);

Prefixed ID : #602849;

Détails

Origin ID

602849;

UMLS CUI

C1864436;

Currated CISMeF NLP mapping
- Fibroblast growth factor receptor 3-related craniosynostosis (disorder) [SNOMED CT concept]
- Muenke Syndrome [DO Concept]
- Muenke Syndrome [MeSH concept]
- Muenke Syndrome [NCIt concept]
- Muenke syndrome [ICD-11 More detail]
- Muenke syndrome [ORDO Disease]
- Muenke syndrome (disorder) [SNOMED CT concept]
- muenke syndrome [MeSH Supplementary Concept]
DO Cross reference
- Muenke Syndrome [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Amblyopia [HPO term]
- Attention deficit hyperactivity disorder [HPO term]
- Autosomal dominant inheritance [HPO term]
- Brachycephaly [HPO term]
- Brachydactyly [HPO term]
- Broad hallux [HPO term]
- Broad thumb [HPO term]
- Capitate-hamate fusion [HPO term]
- Clinodactyly [HPO term]
- Cone-shaped epiphyses of the phalanges of the hand [HPO term]
- Coronal craniosynostosis [HPO term]
- Dental malocclusion [HPO term]
- Downslanted palpebral fissures [HPO term]
- Global developmental delay [HPO term]
- Hearing impairment [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypoplasia of the middle phalanges of the hand [HPO term]
- Intellectual disability [HPO term]
- Low anterior hairline [HPO term]
- Macrocephaly [HPO term]
- Malar flattening [HPO term]
- Midface retrusion [HPO term]
- Plagiocephaly [HPO term]
- Proptosis [HPO term]
- Ptosis [HPO term]
- Radial deviation of finger [HPO term]
- Recurrent otitis media [HPO term]
- Seizure [HPO term]
- Sensorineural hearing impairment [HPO term]
- Short middle phalanx of finger [HPO term]
- Short middle phalanx of toe [HPO term]
- Strabismus [HPO term]
- Temporal bossing [HPO term]
- Thimble-shaped middle phalanges of hand [HPO term]
Not associated HPO term(s)
- Abnormality of body height [HPO term]
- Cloverleaf skull [HPO term]
ORDO concept(s)
- Muenke syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Fibroblast growth factor receptor 3-related craniosynostosis (disorder) [SNOMED CT concept]
- Muenke Syndrome [NCIt concept]
- Muenke Syndrome [MeSH concept]
- Muenke Syndrome [DO Concept]
- Muenke syndrome [ORDO Disease]
- Muenke syndrome [MedDRA Preferred Term]
- Muenke syndrome (disorder) [SNOMED CT concept]
- muenke syndrome [MeSH Supplementary Concept]

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