Duplication of distal phalanx of toe

MedGen UID:: 866966
•Concept ID:: C4021322
•: Anatomical Abnormality

Synonyms:	Duplication of outermost bone of toe; Partial/complete duplication of the distal phalanges of the toes

HPO:	HP:0010193

Definition

A partial or complete duplication of one or more distal phalanx of toe. [from HPO]

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDuplication of distal phalanx of toe

Abnormality of limb bone
- Abnormal limb bone morphology
  - Abnormal digit morphology
    - Abnormal toe morphology
      - Abnormal toe phalanx morphology
        Abnormality of the distal phalanges of the toes
        Duplication of distal phalanx of toe
        Duplication of the distal phalanx of the hallux

Recent clinical studies

Diagnosis

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.

Echaubard S, Pebrel-Richard C, Chausset A, Kemeny JL, Merlin E, Laffargue F
Pediatr Rheumatol Online J 2022 Jul 30;20(1):58. doi: 10.1186/s12969-022-00720-8. PMID: 35908058 Free PMC Article

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679

Are triphalangeal thumb-polysyndactyly syndrome (TPTPS) and tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome (THPTTS) identical? A father with TPTPS and his daughter with THPTTS in a Thai family.

Kantaputra PN, Chalidapong P
Am J Med Genet 2000 Jul 17;93(2):126-31. doi: 10.1002/1096-8628(20000717)93:2<126::aid-ajmg9>3.0.co;2-s. PMID: 10869115

See all (3)

Clinical prediction guides

Is an association of acro-osteolysis, bone fragility, and enchondromatosis a newfound disease caused by an amplification of PTHLH? A case report.

Echaubard S, Pebrel-Richard C, Chausset A, Kemeny JL, Merlin E, Laffargue F
Pediatr Rheumatol Online J 2022 Jul 30;20(1):58. doi: 10.1186/s12969-022-00720-8. PMID: 35908058 Free PMC Article

Duplicated distal phalanx of thumb or hallux in trisomy 13: A recurrent feature in a series of 42 fetuses.

Létard P, Guimiot F, Dupont C, Rosenblatt J, Delezoide AL, Khung-Savatovsky S
Am J Med Genet A 2018 Nov;176(11):2325-2330. Epub 2018 Oct 17 doi: 10.1002/ajmg.a.40505. PMID: 30328679

Palmar and plantar pads and flexion creases of genetic polydactyly mice (Pdn).

Kimura S, Naruse I, Schaumann BA, Plato CC, Shimada M, Shiota K
J Morphol 1999 Jan;239(1):87-96. doi: 10.1002/(SICI)1097-4687(199901)239:1<87::AID-JMOR6>3.0.CO;2-5. PMID: 9918099

See all (3)

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Duplication of distal phalanx of toe

Definition

Term Hierarchy

Recent clinical studies

Diagnosis

Clinical prediction guides

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Clinical resources

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Reviews

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