Absent tibia-polydactyly-arachnoid cyst syndrome
historical
Synonyms: Holmes-Collins syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Infancy, Neonatal
- Status
- historical
A rare multiple congenital anomalies/dysmorphic syndrome characterized by absence/hypoplasia of tibia, postaxial polydactyly of the hands, pre and /or postaxial polydactyly of the feet and retrocerebellar arachnoid cyst. Bowing of the radius and ulna and syndactyly may also be present. Additional clinical features may include ventriculomegaly, cleft lip, diaphragmatic agenesis and malrotation of the colon. There have been no further descriptions in the literature since 1995.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Absent tibia-polydactyly-arachnoid cyst syndrome | Holmes-Collins syndrome |
| fr | Syndrome de tibia absent-polydactylie-kyste arachnoïdien | Syndrome de Holmes-Collins |
| de | Tibiaaplasie-Polydaktylie-arachnoide Zysten-Syndrom | Holmes-Collins-Syndrom |
| es | Síndrome de tibia ausente-polidactilia-quiste aracnoideo | |
| it | Agenesia della tibia - polidattilia - cisti aracnoidea | Sindrome di Holmes-Collins |
| nl | Afwezige tibia - polydactylie - arachnoïdale cyste-syndroom | Syndroom van Holmes-Collins |
| pt | Síndrome de tíbia ausente-polidactilia-quisto aracnóideu | Síndrome Holmes-Collins |
| pl | Brak kości piszczelowej - polidaktylia - torbiel pajęczynówki | Zespół Holmesa i Collinsa |
| cs | Syndrom zahrnující chybějící tibie, polydaktylii a arachnoidální cystu | Holmesův-Collinsův syndrom · Holmes-Collinsův syndrom |
| uk | Синдром відсутності великогомілкової кістки-полідактилії-арахноїдальної кісти | Синдром Холмса-Коллінза |
| zh | 胫骨缺如-多指(趾)畸形-蛛网膜囊肿综合征 | Holmes-Collins综合征 |
| tr | Tibia yokluğu-polidaktili-araknoid kist sendromu | Holmes-Collins sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601027 | E | validated | |
| ICD-10 | Q87.5 | NTBT | attributed | validated |
| MONDO | 0010981 | E | validated | |
| MeSH | C536918 | E | validated | |
| UMLS | C4518567 | E | validated | |
| GARD | 5210 | 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 (5):
- ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone 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 | 8592337[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_8592337[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
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3328
- This record as JSON: /data/d/3328.json