ORPHA:85202
Keutel syndrome
Synonyms: Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Childhood
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism. Vascular calcification has been reported in some cases.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Keutel syndrome | Pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome |
| fr | Syndrome de Keutel | Syndrome de sténose pulmonaire-brachytéléphalangie-calcification du cartilage |
| de | Keutel-Syndrom | Pulmonalstenose - Brachytelephalangie - Knorpel-Kalzifikationen |
| es | Síndrome de Keutel | |
| it | Sindrome di Keutel | Stenosi polmonare - brachitelefalangismo - calcificazione delle cartilagini |
| nl | Syndroom van Keutel | Pulmonalisklepstenose - brachytelefalangisme - verkalking van kraakbeen-syndroom |
| pt | Síndrome Keutel | |
| pl | Zespół Keutela | Pulmonic stenosis - brachytelephalangism - calcification of cartilages |
| cs | Keutelův syndrom | Syndrom zahrnující stenózu arterie pulmonalis, brachytelefalangismus a kalcifikaci chrupavek |
| uk | Синдром Кейтеля | Синдром легеневого стенозу-брахітефалангізму-кальцинозу хрящів |
| zh | Keutel综合征 | 肺动脉狭窄-末节指骨短小-软骨钙化综合征 |
| tr | Keutel sendromu | Pulmonik stenoz-brakitelefalanjizm-kıkırdak sendromunun kalsifikasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 245150 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009495 | E | validated | |
| MeSH | C536167 | E | validated | |
| UMLS | C1855607 | E | validated | |
| GARD | 8449 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (3):
- ORPHA:93442Chondrodysplasia punctata
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - 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
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| MGP | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:7060 | ENSG00000111341 | 154870 | 12p12.3 | matrix Gla protein | 9916809[PMID]_15810001[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 30 cases | Worldwide | Case(s) | Validated | [EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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
24 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0100593 | Calcification of cartilage | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000276 | Long face | |
| HP:0011800 | Midface retrusion | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0100682 | Tracheal atresia | |
| HP:0000445 | Wide nose | |
| Frequent (79-30%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0000365 | Hearing impairment | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0011108 | Recurrent sinusitis | |
| HP:0000340 | Sloping forehead | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0001596 | Alopecia | |
| HP:0004334 | Dermal atrophy | |
| HP:0000648 | Optic atrophy | |
| HP:0001250 | Seizure | |
| HP:0004322 | Short stature | |
| HP:0001027 | Soft, doughy skin | |
Run the differential on the 8 obligate / very frequent terms
Annotation source: 15810001[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/85202
- This record as JSON: /data/d/85202.json