ORPHA:2180
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
Synonyms: Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterized principally by Sprengel anomaly (upward displacement of the scapula) and hydrocephaly. Other anomalies such as global developmental delay, psychosis, brachydactyly, and costovertebral dysplasia may also be present.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome | Ferlini-Ragno-Calzolari syndrome · Waaler-Aarskog syndrome |
| fr | Syndrome d'hydrocéphalie-dysplasie costo-vertébrale-anomalie de Sprengel | Syndrome de Ferlini-Ragno-Calzolari · Syndrome de Waaler-Aarskog |
| de | Hydrozephalus-costovertebrale Dysplasie-Sprengel-Anomalie-Syndrom | Ferlini-Ragno-Calzolari-Syndrom · Waaler-Aarskog-Syndrom |
| es | Síndrome de hidrocefalia-displasia costoventral-anomalía de Sprengel | Síndrome de Ferlini-Ragno-Calzolari · Síndrome de Waaler-Aarskog |
| it | Idrocefalo - displasia costovertebrale - anomalia di Sprengel | Sindrome di Ferlini-Ragno-Calzolari · Sindrome di Waaler-Aarskog |
| nl | Hydrocefalus - costovertebrale dysplasie - anomalie van Sprengel-syndroom | Syndroom van Ferlini-Ragno-Calzolari · Syndroom van Waaler-Aarskog |
| pt | Síndrome de hidrocefalia-displasia costo-vertebral-anomalia de Sprengel | Síndrome Ferlini-Ragno-Calzolari · Síndrome Waaler-Aarskog |
| pl | Wodogłowie - dysplazja żebrowo-kręgowa - anomalia Sprengela | Zespół Ferliniego, Ragno i Calzolari · Zespół Waalera i Aarskoga |
| cs | Syndrom zahrnující hydrocefalus, kostovertebrální dysplázii a Sprengelovu deformitu | Ferliniové-Ragnové-Calzolariové syndrom · Waalerův-Aarskogův syndrom · Ferlini-Ragno-Calzolariové syndrom · Waaler-Aarskogův syndrom |
| uk | Синдром гідроцефалії-костовертебральної дисплазії-аномалії Шпренгеля | Синдром Ферліні-Раньо-Кальцоларі · Синдром Ваалера-Аарскога |
| zh | 脑积水-肋椎的发育不良-Sprengel异常综合征 | Ferlini-Ragno-Calzolari综合征 |
| tr | Hidrosefali-kostovertebral displazi-Sprengel anomali sendromu | Waaler-Aarskog sendromu · Ferlini-Ragno-Calzolari sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 600991 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0010972 | E | validated | |
| MeSH | C536461 | E | validated | |
| UMLS | C2931197 | E | validated | |
| GARD | 5518 | 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 (2):
- 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
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 8 cases | Worldwide | Case(s) | Validated | 8585573[PMID]_6893487[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8585573[PMID]_6893487[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
29 annotations · validated 2017-11-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000238 | Hydrocephalus | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000912 | Sprengel anomaly | |
| Frequent (79-30%) | ||
| HP:0003312 | Abnormal form of the vertebral bodies | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0001000 | Abnormality of skin pigmentation | |
| HP:0000463 | Anteverted nares | |
| HP:0000708 | Atypical behavior | |
| HP:0001156 | Brachydactyly | |
| HP:0000414 | Bulbous nose | |
| HP:0000992 | Cutaneous photosensitivity | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002937 | Hemivertebrae | |
| HP:0000348 | High forehead | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0000272 | Malar flattening | |
| HP:0001513 | Obesity | |
| HP:0000448 | Prominent nose | |
| HP:0001852 | Sandal gap | |
| HP:0002650 | Scoliosis | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000545 | Myopia | |
| HP:0000486 | Strabismus | |
| HP:0006610 | Wide intermamillary distance | |
Run the differential on the 3 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2180
- This record as JSON: /data/d/2180.json