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Preaxial hallucal polydactyly

MedGen UID:
356507
•Concept ID:
C1866339
•
Disease or Syndrome
Synonym: Preaxial Hallucal Polydactyly
 
Monarch Initiative: MONDO:0011139
OMIM®: 601759

Clinical features

From HPO
Preaxial hand polydactyly
MedGen UID:
237235
•Concept ID:
C1395852
•
Congenital Abnormality
Supernumerary digits located at the radial side of the hand. Polydactyly (supernumerary digits) involving the thumb occurs in many distinct forms of high variability and severity. Ranging from fleshy nubbins over varying degrees of partial duplication/splitting to completely duplicated or even triplicated thumbs or preaxial (on the radial side of the hand) supernumerary digits.
See: Feature record | Search on this feature
Preaxial foot polydactyly
MedGen UID:
389171
•Concept ID:
C2112942
•
Finding
Duplication of all or part of the first ray.
See: Feature record | Search on this feature
Diabetes mellitus
MedGen UID:
8350
•Concept ID:
C0011849
•
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Vascular limb defects and maternal age.
Nasri HZ, Westgate MN, Macklin EA, Holmes LB
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):760-3. Epub 2014 Sep 2 doi: 10.1002/bdra.23294. PMID: 25181518
Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A
Am J Med Genet A 2005 May 1;134(4):422-5. doi: 10.1002/ajmg.a.30646. PMID: 15779023
Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.
Slee J, Goldblatt J
J Med Genet 1997 Mar;34(3):261-3. doi: 10.1136/jmg.34.3.261. PMID: 9132503Free PMC Article

Diagnosis

Vascular limb defects and maternal age.
Nasri HZ, Westgate MN, Macklin EA, Holmes LB
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):760-3. Epub 2014 Sep 2 doi: 10.1002/bdra.23294. PMID: 25181518
Further evidence for preaxial hallucal polydactyly as a marker of diabetic embryopathy.
Slee J, Goldblatt J
J Med Genet 1997 Mar;34(3):261-3. doi: 10.1136/jmg.34.3.261. PMID: 9132503Free PMC Article

Therapy

Vascular limb defects and maternal age.
Nasri HZ, Westgate MN, Macklin EA, Holmes LB
Birth Defects Res A Clin Mol Teratol 2014 Oct;100(10):760-3. Epub 2014 Sep 2 doi: 10.1002/bdra.23294. PMID: 25181518

Prognosis

Three patients with hallucal polydactyly and WAGR syndrome, including discordant expression of Wilms tumor in MZ twins.
Brémond-Gignac D, Gérard-Blanluet M, Copin H, Bitoun P, Baumann C, Crolla JA, Benzacken B, Verloes A
Am J Med Genet A 2005 May 1;134(4):422-5. doi: 10.1002/ajmg.a.30646. PMID: 15779023

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