ORPHA:53271
Muenke syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Neonatal
- Status
- active
Muenke syndrome is a syndromic craniosynostosis with significant phenotypic variability, usually characterized by coronal synostosis, midfacial retrusion, strabismus, hearing loss and developmental delay.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Muenke syndrome | |
| fr | Syndrome de Muenke | |
| de | Muenke-Syndrom | |
| es | Síndrome de Muenke | |
| it | Sindrome di Muenke | |
| nl | Syndroom van Muenke | |
| pt | Síndrome Muenke | Craniosinostose coronal não-sindrómica de Muenke |
| pl | Zespół Muenke | |
| cs | Muenkeův syndrom | |
| uk | Синдром Мюнке | |
| zh | Muenke综合征 | |
| tr | Muenke sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602849 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| ICD-11 | LD24.GY | NTBT | index | validated |
| MONDO | 0011274 | E | validated | |
| MeSH | C537369 | E | validated | |
| UMLS | C1864436 | E | validated | |
| GARD | 7097 | E | validated | |
| MedDRA | 10088781 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:1535Craniosynostosis-dysmorphism-brachydactyly syndrome moved to · inactive
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 20301588[PMID]_20301628[PMID]_21438135[PMID] |
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Prevalence and incidence
3 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 3.33 / 100 000 | Worldwide | Value and class | Validated | 15241680[PMID] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | ORPHANET |
| Prevalence at birth | 1-9 / 100 000 | 2.3 / 100 000 | Australia | Value and class | Validated | 34626670[PMID] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000248 | Brachycephaly | |
| HP:0009702 | Carpal synostosis | |
| HP:0010579 | Cone-shaped epiphysis | |
| HP:0004440 | Coronal craniosynostosis | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0002516 | Increased intracranial pressure | |
| HP:0000272 | Malar flattening | |
| HP:0001357 | Plagiocephaly | |
| HP:0000520 | Proptosis | |
| HP:0000508 | Ptosis | |
| HP:0000407 | Sensorineural hearing impairment | |
| HP:0001773 | Short foot | |
| HP:0004279 | Short palm | |
| HP:0008368 | Tarsal synostosis | |
| Occasional (29-5%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0000238 | Hydrocephalus | |
| HP:0001034 | Hypermelanotic macule | |
| HP:0005599 | Hypopigmentation of hair | |
| HP:0001053 | Hypopigmented skin patches | |
| HP:0000256 | Macrocephaly | |
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/53271
- This record as JSON: /data/d/53271.json