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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
Polydactyly of a biphalangeal thumb
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.
Preaxial foot polydactyly
MedGen UID:
389171
Concept ID:
C2112942
Finding
Duplication of all or part of the first ray.
Diabetes mellitus
MedGen UID:
8350
Concept ID:
C0011849
Disease or Syndrome
A group of abnormalities characterized by hyperglycemia and glucose intolerance.

Recent clinical studies

Etiology

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
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
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

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
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

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

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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