Synostosis of metacarpals/metatarsals

MedGen UID:: 867786
•Concept ID:: C4022177
•: Anatomical Abnormality

Synonym:	Fusion of long bones of hand/long bones of foot

HPO:	HP:0100265

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVSynostosis of metacarpals/metatarsals

Phenotypic abnormality
- Abnormality of the musculoskeletal system
  - Abnormal musculoskeletal physiology
    - Abnormal joint physiology
      - Abnormality of joint mobility
        Synostosis of joints
        Synostosis of metacarpals/metatarsals
        Metacarpal synostosis
        Metatarsal synostosis

Recent clinical studies

Etiology

Missense mutations in the homeodomain of HOXD13 are associated with brachydactyly types D and E.

Johnson D, Kan SH, Oldridge M, Trembath RC, Roche P, Esnouf RM, Giele H, Wilkie AO
Am J Hum Genet 2003 Apr;72(4):984-97. Epub 2003 Mar 14 doi: 10.1086/374721. PMID: 12649808 Free PMC Article

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Diagnosis

Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Hettiaracchchi D, Bonnard C, Jayawardana SMA, Ng AYJ, Tohari S, Venkatesh B, Reversade B, Singaraja R, Dissanayake VHW
BMC Med Genet 2018 Jul 24;19(1):125. doi: 10.1186/s12881-018-0646-1. PMID: 30041615 Free PMC Article

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Synostosis of metacarpals/metatarsals

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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