Holoprosencephaly-radial heart renal anomalies syndrome
Synonyms: Steinfeld syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare multiple congenital anomalies syndrome characterised by holoprosencephaly, predominantly radial limb deficiency (absent thumbs, phocomelia), heart defects, kidney malformations and absence of gallbladder. Variable manifestations include vertebral anomalies, cleft lip/palate, microphthalmia, absent nose, dysplastic ears, hearing loss, colobomas of the iris and retina and/or bifid uvula.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holoprosencephaly-radial heart renal anomalies syndrome | Steinfeld syndrome |
| fr | Syndrome de Steinfeld | Syndrome d'holoprosencéphalie-anomalies radiales, cardiaques et rénales |
| de | Steinfeld-Syndrom | Holoprosenzephalie - Radius-, Herz- und Nierenfehlbildungen |
| es | Síndrome de holoprosencefalia-anomalías radiales, cardíacas y renales | Síndrome de Steinfeld |
| it | Sindrome di Steinfeld | Oloprosencefalia - anomalie radiali, cardiache e renali |
| nl | Holoprosencefalie - radiale, cardiale en renale anomalieën-syndroom | Syndroom van Steinfeld |
| pt | Síndrome de holoprosencefalia-anomalias radio-cardio-renais | Síndrome Steinfeld |
| pl | Holoprozencefalia - anomalie kości promieniowej, serca i nerek | Zespół Steinfelda |
| cs | Syndrom zahrnující holoprosencefalii a radiální srdeční renální anomálie | Steinfeldův syndrom |
| uk | Синдром холопрозенцефалії-радіальної серцево-ниркової аномалії | Синдром Штайнфельда |
| zh | 前脑无裂畸形-桡心肾异常综合征 | Steinfeld综合征 |
| tr | Holoprosensefali-radyal kalp böbrek anomalileri sendromu | Steinfeld sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 184705 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0008488 | E | validated | |
| MeSH | C566655 | E | validated | |
| UMLS | C1866649 | E | validated | |
| GARD | 2727 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 20583155[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20583155[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.
HPO phenotypes
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000356 | Abnormality of the outer ear | |
| HP:0009927 | Aplasia of the nose | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000252 | Microcephaly | |
| Frequent (79-30%) | ||
| HP:0011467 | Absent gallbladder | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0003022 | Hypoplasia of the ulna | |
| HP:0000568 | Microphthalmia | |
| HP:0000202 | Orofacial cleft | |
| HP:0003422 | Vertebral segmentation defect | |
| Occasional (29-5%) | ||
| HP:0031095 | Abnormal humerus morphology | |
| HP:0100542 | Abnormal localization of kidney | |
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0009914 | Cyclopia | |
| HP:0001829 | Foot polydactyly | |
| HP:0000365 | Hearing impairment | |
| HP:0000601 | Hypotelorism | |
| HP:0000612 | Iris coloboma | |
| HP:0000161 | Median cleft lip | |
| HP:0000921 | Missing ribs | |
| HP:0001539 | Omphalocele | |
| HP:0002623 | Overriding aorta | |
| HP:0009829 | Phocomelia | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001636 | Tetralogy of Fallot | |
Run the differential on the 5 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3186
- This record as JSON: /data/d/3186.json