Holzgreve syndrome
historical
Synonyms: Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome · Holzgreve-Wagner-Rehder syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- historical
Holzgreve syndrome is an extremely rare, lethal, multiple congenital anomalies/dysmorphic syndrome characterized by renal agenesis with Potter sequence, cleft lip/palate, oral synechiae, cardiac defects, and skeletal abnormalities including postaxial polydactyly. Intestinal nonfixation and intrauterine growth restriction are also associated. There have been no further descriptions in the literature since 1988.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holzgreve syndrome | Cleft palate-Potter sequence-congenital heart anomalies-mesoaxial polydactyly-multiple malformations syndrome · Holzgreve-Wagner-Rehder syndrome |
| fr | Syndrome de Holzgreve | Syndrome de Holzgreve-Wagner-Rehder · Syndrome de fente palatine-séquence de Potter-cardiopathie-polydactylie mésoaxiale |
| de | Holzgreve-Syndrom | Gaumenspalte-Potter-Sequenz-kongenitale Herzanomalien-mesoaxiale Polydaktylie-multiple Fehlbildungen-Syndrom · Holzgreve-Wagner-Rehder-Syndrom |
| es | Síndrome de Holzgreve | Síndrome de Holzgreve-Wagner-Rehder · Síndrome de paladar hendido-sequencia de Potter-anomalías cardíacas congénitas-polidactilia mesoaxial-malformaciones múltiples |
| it | Sindrome di Holzgreve | |
| nl | Syndroom van Holzgreve | Gespleten verhemelte - Potter-sequentie - congenitale hartanomalieën - meso-axiale polydactylie - multipele malformaties-syndroom · Syndroom van Holzgreve-Wagner-Rehder |
| pt | Síndrome Holzgreve | Síndrome Holzgreve-Wagner-Rehder |
| pl | Zespół Holzgreve'a, Wagnera i Rehdera | = en |
| cs | Holzgreveův-Wagnerův-Rehderův syndrom | Holzgreve-Wagner-Rehderův syndrom |
| uk | Синдром Хольцгреве | Розщілина піднебіння-послідовність Поттера-вроджені вади серця-мезоаксіальна полідактилія-синдром множинних вад розвитку · Синдром Хольцгреве-Вагнера-Редера |
| zh | Holzgreve综合征 | Holzgreve-Wagner-Rehder综合征 |
| tr | Holzgreve sendromu | Yarık damak-Potter dizisi-doğumsal kalp anomalileri-mezoaksiyal polidaktili-çoklu malformasyon sendromu · Holzgreve-Wagner-Rehder sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 236110 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009350 | E | validated | |
| MeSH | C535327 | E | validated | |
| UMLS | C1856095 | E | validated | |
| GARD | 2728 | 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:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
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 | 3 cases | Worldwide | Case(s) | Validated | 6741992[PMID]_3309184[PMID]_3232694[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_6741992[PMID]_3309184[PMID]_3232694[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
21 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0000175 | Cleft palate | |
| HP:0001161 | Hand polydactyly | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001562 | Oligohydramnios | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| Frequent (79-30%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0040071 | Abnormal morphology of ulna | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0100016 | Abnormality of mesentery morphology | |
| HP:0100569 | Abnormally ossified vertebrae | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0010295 | Aplasia/Hypoplasia of the tongue | |
| HP:0010297 | Bifid tongue | |
| HP:0001387 | Joint stiffness | |
| HP:0000400 | Macrotia | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0001195 | Single umbilical artery | |
| HP:0000262 | Turricephaly | |
| HP:0000465 | Webbed neck | |
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2167
- This record as JSON: /data/d/2167.json