Familial clubfoot with or without associated lower limb anomalies
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
Familial clubfoot with or without associated lower limb anomalies is a rare congenital limb malformation syndrome characterized by malalignment of the bones and joints of the foot and ankle, with presence of forefoot and midfoot adductus, hindfoot varus, and ankle equinus, presenting as rigid inward turning of the foot towards the midline, in various members of a single family. Hypoplasia of lower leg muscles is a frequently associated finding. Patients may present with other low-limb malformations, such as patellar hypoplasia, oblique talus, tibial hemimelia, and polydactyly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Familial clubfoot with or without associated lower limb anomalies | |
| fr | Pied bot familial avec ou sans autres anomalies des membres inférieurs | |
| de | Klumpfuß, familiärer, mit oder ohne untere Extremitätenanomalie | |
| es | Pie zambo familiar con o sin anomalías de las extremidades inferiores | |
| it | Piede torto familiare con o senza anomalie degli arti inferiori correlate | |
| nl | Familiale klompvoet met of zonder geassocieerde onderste ledemaatanomalieën | |
| pt | Hemimelia tibial - pé boto | |
| pl | Rodzinna stopa końsko-szpotawa z lub bez towarzyszących wad kończyny dolnej | |
| cs | Familiární pes equinovarus s nebo bez dalších anomálií dolních končetin | |
| uk | Сімейна клишоногість з або без супутніх аномалій нижніх кінцівок | |
| zh | 家族性马蹄内翻足伴或不伴下肢畸形 | |
| tr | Alt ekstremite anomalileri olan veya olmayan ailesel çarpık ayak |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 119800 | BTNT | validated | |
| OMIM | 613618 | BTNT | validated | |
| ICD-10 | Q66.8 | NTBT | attributed | validated |
| ICD-11 | LB98.Y | NTBT | attributed | validated |
| MONDO | 0016046 | E | validated | |
| UMLS | C5680522 | 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 (4):
- ORPHA:404571Dysostosis of genetic origin with limb anomaly as a major feature
rare genetic diseases - ORPHA:364568Dysostosis with limb anomaly as a major feature
rare developmental anomalies during embryogenesis; rare bone diseases - ORPHA:404577Genetic syndrome with limb malformations as a major feature
rare genetic diseases - ORPHA:109009Syndrome with limb malformations as a major feature
rare developmental anomalies during embryogenesis
Genes
0 direct · 3 via subtypesOrphanet records no gene directly on this code.
Recorded by Orphanet on subtypes of this disorder:
| Gene | Subtype | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|---|
| PITX1 | ORPHA:293150Familial clubfoot due to PITX1 point mutation | Disease-causing germline mutation(s) in | Assessed | HGNC:9004 | ENSG00000069011 | 602149 | 5q31.1 | paired like homeodomain 1 | 18950742[PMID] |
| PITX1 | ORPHA:293144Familial clubfoot due to 5q31 microdeletion | Role in the phenotype of | Assessed | HGNC:9004 | ENSG00000069011 | 602149 | 5q31.1 | paired like homeodomain 1 | 21775501[PMID] |
| TBX4 | ORPHA:238578Familial clubfoot due to 17q23.1q23.2 microduplication | Role in the phenotype of | Assessed | HGNC:11603 | ENSG00000121075 | 601719 | 17q23.2 | T-box transcription factor 4 | 20598276[PMID] |
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
Orphanet has no HPO annotation for this code in this release.
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/199315
- This record as JSON: /data/d/199315.json