Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare, genetic, congenital limb malformation syndrome characterized by bilateral short broad thumbs, short deviated index fingers, clinodactyly of the fifth fingers, broad, valgus-deviated halluces and laterally-deviated, overlapping second toe, associated with severe pectus excavatum and craniofacial dysmorphism (including brachycephaly, low anterior hairline, flat supraorbital ridges, telecanthus, upslanting palpebral fissures, maxillary hypoplasia, posteriorly rotated ears, microsomia and micrognathia). Radiological findings include thumb, index, and middle finger hyperphalangy, with severe delta phalanxes in affected fingers and halluces.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome | |
| fr | Syndrome d'hyperphalangie des doigts de la main-anomalies des orteils-pectus excavatum sévère | |
| de | Hyperphalangie der Finger-Zehenanomalie-schweres Pectus excavatum-Syndrom | |
| es | Síndrome de hiperfalangia de los dedos-anomalías de los pies-pectus excavatum grave | |
| it | Sindrome da iperfalangismo delle dita delle mani, anomalie delle dita dei piedi e pectus excavatum grave | |
| nl | Hyperfalangie van vingers - teenanomalieën - ernstige pectus excavatum-syndroom | |
| pt | Síndrome de hiperfalangismo anomalias dos pés pectus escavado grave | |
| pl | Zespół hiperfalangia palców-wady palców stóp-zaawansowana klatka piersiowa lejkowata | |
| cs | Syndrom zahrnující hyperfalangii prstů ruky, anomálie prstů nohy a těžký pectus excavatum | |
| uk | Синдром гіперфалангії пальців кисті-аномалії пальців стопи-тяжкий pectus excavatum | |
| zh | 多指畸形-脚趾异常-严重漏斗胸综合征 | |
| tr | Parmak hiperfalanjisi-ayak parmak anomalileri-ağır pektus ekskavatum sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.2 | NTBT | attributed | validated |
| MONDO | 0018249 | E | validated | |
| UMLS | C5190599 | 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 (1):
- ORPHA:294959Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
rare developmental anomalies during embryogenesis; rare genetic diseases; 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 | 2 cases | Worldwide | Case(s) | Validated | 23824731[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | 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.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/369979
- This record as JSON: /data/d/369979.json