ORPHA:3329
Tibial aplasia-ectrodactyly syndrome
Synonyms: Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome · SHFM associated with aplasia of long bones · Split hand/foot malformation with long bone deficiency · Split-hand/foot malformation associated with aplasia of long bones · TH-SHFM · Tibial hemimelia with split hand/foot malformation · Tibial hemimelia-ectrodactyly syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Antenatal, Infancy, Neonatal
- Status
- active
A rare syndrome with limb reduction defects characterized by congenital ectrodactylous limb malformations associated with tibial aplasia or hypoplasia. Clinical presentation is highly variable and ranges from bilateral aplasia of tibiae and split-hand/split-foot deformity (tetramonodactyly or transverse hemimelia) to the mildest visible manifestation, hypoplastic big toes. Additional malformations may include distal hypoplasia or bifurcation of femora, hypo- or aplasia of ulnae, and minor anomalies such as aplasia of patellae, postaxial and intermediate polydactyly in association with split-hand deformity, and cup-shaped ears.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tibial aplasia-ectrodactyly syndrome | Aplasia of tibia with split-hand/split-foot deformity · SHFLD syndrome · SHFM associated with aplasia of long bones · Split hand/foot malformation with long bone deficiency · Split-hand/foot malformation associated with aplasia of long bones · TH-SHFM · Tibial hemimelia with split hand/foot malformation · Tibial hemimelia-ectrodactyly syndrome |
| fr | Syndrome de tibia aplasique-ectrodactylie | Aplasie du tibia avec anomalie des mains et pieds fendus · Hémimélie tibiale avec malformation des mains et pieds fendus · Malformation des mains et pieds fendus associée à une aplasie des os longs · Malformation des mains et pieds fendus avec une anomalie des os longs · Syndrome SHFLD · Syndrome d'hémimélie tibiale-ectrodactylie |
| de | Tibiale Aplasie-Ektrodaktylie-Syndrom | SHFLD-Syndrom · SHFM in Assoziation mit Aplasie langer Knochen · Spaltbildungen an Händen/Füßen in Verbindung mit Aplasie der langen Knochen · TH-SHFM · Tibia-Hemimelie-Ektrodaktylie-Syndrom · Tibiaaplasie mit Spalthand-Spaltfuß-Deformität |
| es | Síndrome de aplasia tibial-ectrodactilia | |
| it | Aplasia della tibia - ectrodattilia | Schisi della mano - agenesia della tibia |
| nl | Aplasie van tibia - ectrodactylie-syndroom | Aplasie van tibia met gespleten hand/gespleten voet · Gespleten hand/voet-malformatie geassocieerd met aplasie van pijpbeenderen · Gespleten hand/voet-malformatie met deficiëntie van pijpbeenderen · SHFLD-syndroom · SHFM geassocieerd met aplasie van pijpbeenderen · TH-SHFM · Tibiale hemimelie - ectrodactylie-syndroom · Tibiale hemimelie met gespleten hand/voet-malformatie |
| pt | Síndrome de aplasia da tíbia-ectrodactilia | Aplasia da tíbia com deformação da mão/pé fendido · Hemimelia tibial com malformação da mão/pé fendido · Malformação da mão/pé fendidos associada a aplasia dos ossos longos · Malformação da mão/pé fendidos com deficiência dos ossos longos · SHFLD associado a aplasia dos ossos longos · Síndrome SHFLD · Síndrome hemimelia tibial-ectodractilia |
| pl | Aplazja kości piszczelowej - ektrodaktylia | Aplazja kości piszczelowej z rozszczepem dłoni/rozszczepem stopy · Hemimelia piszczelowa z rozszczepem dłoni/stopy · Rozszczep dłoni/stopy z ubytkiem kości długich · Rozszczep dłoni/stopy związany z aplazją kości długich · SHFM związany z aplazją kości długich · TH-SHFM · Zespół hemimelia piszczelowa-ektrodaktylia · Zespół SHFLD |
| cs | Syndrom zahrnující tibiální aplázii a ektrodaktylii | Aplázie tibie s deformitou split-hand/split-foot · SHFLD syndrom · SHFM asociovaná s aplázií dlouhých kostí · Split hand/foot malformace s deficitem dlouhých kostí · Split-hand/foot malformace asociovaná s aplázií dlouhých kostí · TH-SHFM · Tibiální hemimelie se split hand/foot malformací · Syndrom zahrnující tibiální hemimelii a ektrodaktylii |
| uk | Синдром аплазії великогомілкової кістки-ектродактилії | Аплазія великогомілкової кістки з деформацією розщепленої кисті/розщепленої стопи · Синдром SHFLD · SHFM, асоційована з аплазією довгих кісток · Роздвоєна вада кисті/стопи з дефіцитом довгих кісток · Розщеплення кисті/стопи, повязане з аплазією довгих кісток · TH-SHFM · Гемімелія великогомілкової кістки з роздвоєнням кисті/стопи · Синдром гемімелії-ектродактилії великогомілкової кістки |
| zh | 胫骨发育不良-先天性缺指(趾)畸形 | 长骨发育不全相关性手足裂畸形 |
| tr | Tibial aplazi-ektrodaktili sendromu | TH-SHFM · SHFLD sendromu · Tibial hemimeli-ektrodaktili sendromu · Uzun kemik aplazisi ile seyreden SHFM · Bölünmüş el/ayak malformasyon ile seyreden tibiyal hemimeli · Ayrık el/ayrık ayak deformitesi ile seyreden tibiya aplazisi · Uzun kemik eksikliği ile seyreden ayrık el/ayak malformasyonu · Uzun kemik aplazisi ile seyreden ayrık el/ayak malformasyonu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119100 | BTNT | validated | |
| OMIM | 610685 | BTNT | validated | |
| OMIM | 612576 | BTNT | validated | |
| ICD-10 | Q73.8 | NTBT | attributed | validated |
| ICD-11 | LD26.0 | NTBT | index | validated |
| MONDO | 0018050 | E | validated | |
| MeSH | C536425 | E | validated | |
| UMLS | C4551989 | E | validated | |
| GARD | 1369 | 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 (5):
- ORPHA:294957Dysostosis with combined reduction defects of upper and lower limbs
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:498477Ectrodactyly with and without other manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:404574Genetic syndrome with limb reduction defects
rare genetic diseases - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases - ORPHA:294955Syndrome with limb reduction defects
rare developmental anomalies during embryogenesis; rare bone diseases
No children.
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BHLHA9 | Major susceptibility factor in | Not yet assessed | HGNC:35126 | ENSG00000205899 | 615416 | 17p13.3 | basic helix-loop-helix family member a9 |
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Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | 1-9 / 1 000 000 | 0.1 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
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
18 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0005772 | Aplasia/Hypoplasia of the tibia | |
| HP:0100257 | Ectrodactyly | |
| HP:0001376 | Limitation of joint mobility | |
| Occasional (29-5%) | ||
| HP:0002991 | Abnormal fibula morphology | |
| HP:0002823 | Abnormality of femur morphology | |
| HP:0006495 | Aplasia/Hypoplasia of the ulna | |
| HP:0001156 | Brachydactyly | |
| HP:0002980 | Femoral bowing | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0006101 | Finger syndactyly | |
| HP:0001539 | Omphalocele | |
| HP:0000396 | Overfolded helix | |
| HP:0006443 | Patellar aplasia | |
| HP:0009756 | Popliteal pterygium | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001177 | Preaxial hand polydactyly | |
| HP:0003097 | Short femur | |
Run the differential on the 1 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3329
- This record as JSON: /data/d/3329.json