ORPHA:1517
Cantú syndrome
Synonyms: Congenital hypertrichosis-acromegaloid facial features spectrum · Congenital hypertrichosis-coarse facial features spectrum · Hypertrichotic osteochondrodysplasia
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Neonatal
- Status
- active
Cantu syndrome is a rare disorder characterized by congenital hypertrichosis, osteochondrodysplasia, cardiomegaly, and dysmorphism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Cantú syndrome | Congenital hypertrichosis-acromegaloid facial features spectrum · Congenital hypertrichosis-coarse facial features spectrum · Hypertrichotic osteochondrodysplasia |
| fr | Syndrome de Cantú | Ostéochondrodysplasie hypertrichotique · Spectre hypertrichose congénitale-faciès acromégaloïde |
| de | Cantú-Syndrom | Cantu-Syndrom · Hypertrichose mit Osteochondrodysplasie vom Typ Cantú |
| es | Síndrome de Cantú | Espectro de hipertricosis congénita-apariencia facial acromegaloide · Espectro de hipertricosis congénita-rasgos faciales toscos · Osteocondrodisplasia hipertricótica |
| it | Osteocondrodisplasia ipertricotica tipo Cantu | |
| nl | Syndroom van Cantú | Congenitale hypertrichose - acromegaloïde gelaatskenmerken-spectrum · Congenitale hypertrichose - grove gelaatskenmerken-spectrum · Hypertrichotische osteochondrodysplasie |
| pt | Síndrome Cantú | Hipertricose congénita-espectro de características faciais acromegalóides · Hipertricose congénita-espectro de características faciais grosseiras · Osteocondrodisplasia hipertricótica |
| pl | Osteochondrodysplazja hipertrichotyczna typu Cantu | Zespół Cantu |
| cs | Hypertrichotická osteochondrodysplázie, Cantuův typ | Cantúův syndrom |
| uk | Синдром Канту | Вроджений гіпертрихоз-акромегалоїдний спектр рис обличчя · Вроджений гіпертрихоз - спектр грубих рис обличчя · Гіпертрихотична остеохондродисплазія |
| zh | 多毛性骨软骨发育不良，Cantu型 | |
| tr | Hipertrikotik osteokondrodisplazi, Cantu tipi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 239850 | E | validated | |
| ICD-10 | Q78.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009406 | E | validated | |
| MeSH | C535572 | E | validated | |
| UMLS | C0795905 | E | validated | |
| GARD | 8585 | 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:93453Dysostosis with predominant craniofacial involvement
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.
Codes that Orphanet moved or referred to this one:
- ORPHA:965Acromegaloid facial appearance syndrome moved to · inactive
- ORPHA:966Hypertrichosis-acromegaloid facial appearance syndrome moved to · inactive
- ORPHA:2765OBSOLETE: Hypertrichotic osteochondrodysplasia referred to · inactive
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Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| ABCC9 | Disease-causing germline mutation(s) in | Assessed | HGNC:60 | ENSG00000069431 | 601439 | 12p12.1 | ATP binding cassette subfamily C member 9 | 22608503[PMID]_22610116[PMID] |
| KCNJ8 | Disease-causing germline mutation(s) in | Assessed | HGNC:6269 | ENSG00000121361 | 600935 | 12p12.1 | potassium inwardly rectifying channel subfamily J member 8 | 24700710[PMID]_24176758[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 50 cases | Worldwide | Case(s) | Validated | 28690487[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28690487[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
38 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0001640 | Cardiomegaly | |
| HP:0000280 | Coarse facial features | |
| HP:0002673 | Coxa valga | |
| HP:0007665 | Curly eyelashes | |
| HP:0002230 | Generalized hirsutism | |
| HP:0000527 | Long eyelashes | |
| HP:0000343 | Long philtrum | |
| HP:0000294 | Low anterior hairline | |
| HP:0002162 | Low posterior hairline | |
| HP:0000574 | Thick eyebrow | |
| HP:0012471 | Thick vermilion border | |
| HP:0000154 | Wide mouth | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0010059 | Broad hallux phalanx | |
| HP:0000885 | Broad ribs | |
| HP:0004634 | Cuboid-shaped vertebral bodies | |
| HP:0001869 | Deep plantar creases | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0000286 | Epicanthus | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0000256 | Macrocephaly | |
| HP:0000774 | Narrow chest | |
| HP:0000939 | Osteoporosis | |
| HP:0003300 | Ovoid vertebral bodies | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000926 | Platyspondyly | |
| HP:0000336 | Prominent supraorbital ridges | |
| HP:0009882 | Short distal phalanx of finger | |
| HP:0010109 | Short hallux | |
| HP:0000470 | Short neck | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001537 | Umbilical hernia | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0001654 | Abnormal heart valve morphology | |
| HP:0005616 | Accelerated skeletal maturation | |
| HP:0006101 | Finger syndactyly | |
| HP:0001639 | Hypertrophic cardiomyopathy | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1517
- This record as JSON: /data/d/1517.json