ORPHA:973
Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Synonyms: Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral · Isolated digits 2-5 oligodactyly, unilateral
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
Congenital absence/hypoplasia of fingers excluding thumb, unilateral is a rare, non-syndromic, terminal transverse limb reduction defect characterized by unilateral absence of the terminal portions of digits 2 to 5, with a mildly hypoplastic thumb and small nail remnants on the digital stumps. Metacarpal bones may be variably reduced.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated absence/hypoplasia of fingers excluding thumb, unilateral | Isolated congenital adactyly of hand, unilateral · Isolated digits 2-5 hypodactyly, unilateral · Isolated digits 2-5 oligodactyly, unilateral |
| fr | Absence/hypoplasie isolée unilatérale des doigts à l'exception du pouce | Adactylie congénitale isolée unilatérale de la main · Hypodactylie congénitale isolée unilatérale des doigts 2-5 · Oligodactylie congénitale isolée unilatérale des doigts 2-5 |
| de | Isolierte unilaterale Fingeraplasie/-hypoplasie, excl. Daumen | Isolierte kongenitale Adaktylie der Hand, unilateral · Isolierte unilaterale Hypodaktylie der Phalangen 2-5 · Isoliertes unilaterales Fehlen der Phalangen 2-5 |
| es | Ausencia/hipoplasia aislada de los dedos de la mano a excepción del pulgar, unilateral | Adactilia congénita de la mano aislada, unilateral · Hipodactilia aislada de los dedos 2-5, unilateral · Oligodactilia aislada de los dedos 2-5, unilateral |
| it | Aplasia/ipoplasia isolata monolaterale delle dita delle mani ad esclusione del pollice | Adattilia congenita monolaterale isolata della mano · Adattilia unilaterale della mano · Ipodattilia unilaterale delle dita della mano 2-5 · Oligodattilia unilaterale delle dita della mano 2-5 |
| nl | Geïsoleerde afwezigheid/hypoplasie van vingers exclusief duim, unilateraal | Geïsoleerde congenitale adactylie van hand, unilateraal · Geïsoleerde hypodactylie van vingers 2-5, unilateraal · Geïsoleerde oligodactylie van vingers 2-5, unilateraal |
| pt | Ausência isolada/hipoplasia dos dedos excluindo o polegar, unilateral | Adactilia congénita isolada da mão, unilateral · Hipoactilia isolada dos dedos 2-5, unilateral · Oligodactilia isolada dos dedos 2-5, unilateral |
| pl | Wrodzony jednostronny brak/niedorozwój palców z wyjątkiem kciuka | Adaktylia dłoni, jednostronna · Hipodaktylia palców 2-5, jednostronna · Oligodaktylia palców 2-5, jednostronna · Izolowany brak/hipoplazja palców z wyjątkiem kciuka, jednostronna |
| cs | Unilaterální vrozená absence/hypoplázie prstů kromě palců | Adaktylie ruky, unilaterální · Unilaterální hypodaktylie prstů 2-5 · Unilaterální oligodaktylie prstů 2-5 |
| uk | Ізольована відсутність/гіпоплазія пальців, крім великого, одностороння | Ізольована вроджена адактилія кисті, одностороння · Ізольована гіподактилія 2-5 пальців, одностороння · Олігодактилія ізольованих пальців 2-5, одностороння |
| zh | 先天性除拇指外单侧手指缺如/发育不全 | 第2-5指少指畸形，单侧 |
| tr | Doğumsal yokluk/baş parmak hariç parmakların tek taraflı hipoplazisi | Adaktili el, unilateral · 2-5 rakamlar hipodaktili, unilateral · 2-5 rakamları oligodaktili, unilateral |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 102650 | E | validated | |
| ICD-10 | Q71.3 | NTBT | attributed | validated |
| ICD-11 | LB99.7 | NTBT | index | validated |
| MONDO | 0007062 | E | validated | |
| MONDO | 7062 | E | validated | |
| MeSH | C562417 | E | validated | |
| UMLS | C5924999 | E | validated | |
| GARD | 377 | 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 (1):
- ORPHA:498461Non-syndromic terminal transverse limb defect
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 families | Worldwide | Family(ies) | Validated | 3725479[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_3725479[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.
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HPO phenotypes
5 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0005916 | Abnormal metacarpal morphology | |
| HP:0009988 | Duplication of the distal phalanx of the 5th finger | |
| HP:0010049 | Short metacarpal | |
| HP:0001799 | Short nail | |
| HP:0009778 | Short thumb | |
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/973
- This record as JSON: /data/d/973.json