ORPHA:93322
Isolated tibial hemimelia
Synonyms: Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula · Isolated congenital longitudinal deficiency of the tibia · Isolated tibial longitudinal meromelia
- Type
- Morphological anomaly
- Group
- Disorder
- Inheritance
- Autosomal dominant, Autosomal recessive, Not applicable
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare congenital limb formation characterized by partial or complete absence of the tibia with a relatively intact fibula.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Isolated tibial hemimelia | Isolated congenital absence of tibia · Isolated congenital aplasia and dysplasia of the tibia with intact fibula · Isolated congenital longitudinal deficiency of the tibia · Isolated tibial longitudinal meromelia |
| fr | Hémimélie tibiale isolée | Absence isolée congénitale de tibia · Aplasie et dysplasie isolée du tibia avec péroné intact · Déficit isolé congénital longitudinal du tibia · Méromélie tibiale longitudinale isolée |
| de | Tibia-Hemimelie, isolierte | Isolierte kongenitale Aplasie und Dysplasie der Tibia mit intakter Fibula · Isolierte tibiale longitudinale Meromelie · Isoliertes angeborenes Fehlen des Schienbeines · Tibiafehlbildung, isolierte kongenitale longitudinale |
| es | Hemimelia tibial aislada | Aplasia congénita aislada y displasia de la tibia con peroné intacto · Ausencia congénita aislada de la tibia · Deficiencia longitudinal congénita aislada de la tibia · Meromelia longitudinal tibial aislada |
| it | Emimelia tibiale Isolata | Aplasia e displasia congenita isolata della tibia con perone intatto · Assenza della tibia congenita isolata · Deficit longitudinale congenito isolato della tibia · Meromelia tibiale longitudinale isolata |
| nl | Geïsoleerde hemimelie van tibia | Geïsoleerde congenitale afwezigheid van tibia · Geïsoleerde congenitale aplasie en dysplasie van tibia met intacte fibula · Geïsoleerde congenitale longitudinale deficiëntie van tibia · Geïsoleerde hemimelie van scheenbeen · Geïsoleerde tibiale longitudinale meromelie |
| pt | Hemimelia tibial isolada | Aplasia e displasia da tíbia com fíbula intacta isolada congénita · Ausência de tíbia isolada congénita · Deficiência longitudinal da tíbia isolada congénita · Meromelia tibial longitudinal isolada |
| pl | Izolowana hemimelia strzałkowa | Brak kości piszczelowej · Wrodzona aplazja i dysplazja kości piszczelowej z prawidłową kością strzałkową · Wrodzone skrócenie kości piszczelowej |
| cs | Tibiální hemimelie | Vrozená absence tibie · Vrozená aplázie a dysplázie tibie s intaktní fibulou · Vrozený longitudinální deficit tibie · Tibiální longitudinální meromelie |
| uk | Ізольована гемімелія великогомілкової кістки | Ізольована вроджена відсутність великогомілкової кістки · Ізольована вроджена аплазія та дисплазія великогомілкової кістки з інтактною малогомілковою кісткою · Ізольована вроджена поздовжня вада великогомілкової кістки · Ізольована великогомілкова поздовжня меромелія |
| zh | 胫侧半肢畸形 | 先天性胫骨发育不全和发育不良伴腓骨完整 |
| tr | Tibial hemimeli | Tibianın doğumsal yokluğu · Tibial longitudinal meromeli · Tibianın doğumsal longitudinal eksikliği · Sağlam fibulalı tibianın doğumsal aplazisi ve displazisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 275220 | E | validated | |
| ICD-10 | Q72.5 | E | specific | validated |
| ICD-11 | LB9A.1 | E | specific | validated |
| MONDO | 0010144 | E | validated | |
| MeSH | C535563 | E | validated | |
| UMLS | C5925046 | E | validated | |
| GARD | 8707 | 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:2130Non-syndromic hemimelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:295077OBSOLETE: Tibial hemimelia, unilateral referred to · inactive
- ORPHA:295079OBSOLETE: Tibial hemimelia, bilateral referred to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| GLI3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:4319 | ENSG00000106571 | 165240 | 7p14.1 | GLI family zinc finger 3 | 26791356[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | 16224672[PMID] |
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | 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
33 annotations · validated 2019-10-16| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009556 | Absent tibia | |
| HP:0001762 | Talipes equinovarus | |
| Frequent (79-30%) | ||
| HP:0006380 | Knee flexion contracture | |
| HP:0004987 | Mesomelic leg shortening | |
| HP:0001171 | Split hand | |
| Occasional (29-5%) | ||
| HP:0012386 | Absent hallux | |
| HP:0003974 | Absent radius | |
| HP:0010037 | Aplasia of the 2nd metacarpal | |
| HP:0010043 | Aplasia of the 4th metacarpal | |
| HP:0010554 | Cutaneous finger syndactyly | |
| HP:0001849 | Foot oligodactyly | |
| HP:0001385 | Hip dysplasia | |
| HP:0006460 | Increased laxity of ankles | |
| HP:0001840 | Metatarsus adductus | |
| HP:0012165 | Oligodactyly | |
| HP:0030032 | Partial absence of foot | |
| HP:0010442 | Polydactyly | |
| HP:0005892 | Proximal tibial and fibular fusion | |
| HP:0004059 | Radial club hand | |
| HP:0006426 | Rudimentary to absent tibiae | |
| HP:0005736 | Short tibia | |
| HP:0001839 | Split foot | |
| HP:0001159 | Syndactyly | |
| HP:0008368 | Tarsal synostosis | |
| Very rare (<4-1%) | ||
| HP:0000062 | Ambiguous genitalia | |
| HP:0000175 | Cleft palate | |
| HP:0002673 | Coxa valga | |
| HP:0000028 | Cryptorchidism | |
| HP:0000365 | Hearing impairment | |
| HP:0002937 | Hemivertebrae | |
| HP:0002827 | Hip dislocation | |
| HP:0000047 | Hypospadias | |
| HP:0002475 | Myelomeningocele | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 26791356[PMID]_31078790[PMID]_27277586[PMID]_27909860[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93322
- This record as JSON: /data/d/93322.json