ORPHA:2166
Holoprosencephaly-postaxial polydactyly syndrome
Synonyms: Pseudo-trisomy 13 syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Holoprosencephaly-postaxial polydactyly syndrome associates, in chromosomally normal neonates, holoprosencephaly, severe facial dysmorphism, postaxial polydactyly and other congenital abnormalities, suggestive of trisomy 13.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Holoprosencephaly-postaxial polydactyly syndrome | Pseudo-trisomy 13 syndrome |
| fr | Syndrome d'holoprosencéphalie-polydactylie post-axiale | Syndrome pseudo-trisomie 13 |
| de | Holoprosenzephalie - postaxiale Polydaktylie | Pseudotrisomie 13-Syndrom |
| es | Síndrome de holoprosencefalia-polidactilia postaxial | Síndrome de pseudo-trisomía 13 |
| it | Oloprosencefalia - polidattilia postassiale | Sindrome da pseudotrisomia 13 |
| nl | Holoprosencefalie - postaxiale polydactylie-syndroom | Pseudotrisomie 13-syndroom |
| pt | Síndrome de holoprosencefalia-polidactilia pós-axial | Síndrome Young-Maders · Síndrome de pseudo-trissomia 13 |
| pl | Holoprozencefalia - polidaktylia zaosiowa | Zespół rzekomej trisomii 13 |
| cs | Syndrom zahrnující holoprosencefalii a postaxiální polydaktylii | Pseudotrizomie chromozomu 13 |
| uk | Синдром голопрозенцефально-постаксіальної полідактилії | Синдром псевдотрисомії 13 |
| zh | 前脑无裂畸形-轴后性多指（趾）综合征 | 假性13三体综合征 |
| tr | Holoprosensefali-postaksiyal polidaktili sendromu | Psödo-trizomi 13 sendromu |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 264480 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0009921 | E | validated | |
| MeSH | C535829 | E | validated | |
| UMLS | C1849649 | E | validated | |
| GARD | 344 | 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
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet 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
36 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0008736 | Hypoplasia of penis | |
| HP:0010650 | Hypoplasia of the premaxilla | |
| HP:0000601 | Hypotelorism | |
| HP:0000568 | Microphthalmia | |
| HP:0001162 | Postaxial hand polydactyly | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0002101 | Abnormal lung lobation | |
| HP:0000864 | Abnormality of the hypothalamus-pituitary axis | |
| HP:0000835 | Adrenal hypoplasia | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0002023 | Anal atresia | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0000175 | Cleft palate | |
| HP:0000028 | Cryptorchidism | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0000252 | Microcephaly | |
| HP:0000202 | Orofacial cleft | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0005990 | Thyroid hypoplasia | |
| Occasional (29-5%) | ||
| HP:0100542 | Abnormal localization of kidney | |
| HP:0100596 | Absent nares | |
| HP:0001321 | Cerebellar hypoplasia | |
| HP:0009914 | Cyclopia | |
| HP:0002084 | Encephalocele | |
| HP:0002566 | Intestinal malrotation | |
| HP:0000347 | Micrognathia | |
| HP:0000160 | Narrow mouth | |
| HP:0001539 | Omphalocele | |
| HP:0001561 | Polyhydramnios | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0001883 | Talipes | |
| HP:0001537 | Umbilical hernia | |
Run the differential on the 5 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/2166
- This record as JSON: /data/d/2166.json