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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.
Biomarker and diagnostic research for familial clubfoot with or without associated lower limb anomalies has been reported in the published literature.
No clinical trials have been registered for familial clubfoot with or without associated lower limb anomalies.
202 publications have been identified in PubMed for familial clubfoot with or without associated lower limb anomalies. Kisho has analyzed 142 by research type. Research spans Case Report / Case Series (28%), Epidemiology / Natural History (26%), and Review / Meta-Analysis (25%).
Research Type | Count | % of Total |
|---|---|---|
Patient case studies | 40 |
Data assembled from 3 of 12 sources · Last updated Sep 20, 2026, 9:35 PM UTC
European rare disease database
Genetic and Rare Diseases Info Center
Disease patterns and progression | 37 | 26% |
Research summaries | 35 | 25% |
Laboratory research | 14 | 10% |
Testing and diagnosis research | 13 | 9% |
Clinical study results | 3 | 2% |
Bitar RA (2026). [PMID: 40671560](https://pubmed.ncbi.nlm.nih.gov/40671560/). *Pediatr Dermatol*. [Case Report / Case Series]
Syed HA (2026). [PMID: 30855856](https://pubmed.ncbi.nlm.nih.gov/30855856/). *Unknown Journal*. [Epidemiology / Natural History]
Fauque P (2026). [PMID: 41453370](https://pubmed.ncbi.nlm.nih.gov/41453370/). *Human reproduction (Oxford, England)*. [Basic Science / Preclinical]
Promer HJ (2026). [PMID: 42032306](https://pubmed.ncbi.nlm.nih.gov/42032306/). *Skeletal Radiol*. [Review / Meta-Analysis]
Barré A (2026). [PMID: 40956043](https://pubmed.ncbi.nlm.nih.gov/40956043/). *Journal of pediatric orthopedics*. [Basic Science / Preclinical]
Ishibashi K (2026). [PMID: 41710457](https://pubmed.ncbi.nlm.nih.gov/41710457/). *Orthopaedic journal of sports medicine*. [Diagnostic / Biomarker]
Thakur S (2026). [PMID: 39287886](https://pubmed.ncbi.nlm.nih.gov/39287886/). *Journal of ultrasound*. [Case Report / Case Series]
Ollivier M (2026). [PMID: 40935326](https://pubmed.ncbi.nlm.nih.gov/40935326/). *Orthop Traumatol Surg Res*. [Review / Meta-Analysis]
Liu X (2026). [PMID: 41764505](https://pubmed.ncbi.nlm.nih.gov/41764505/). *Journal of cardiothoracic surgery*. [Basic Science / Preclinical]
Yang Y (2026). [PMID: 42286573](https://pubmed.ncbi.nlm.nih.gov/42286573/). *BMC Musculoskelet Disord*. [Epidemiology / Natural History]