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Non-syndromic syndactyly

MedGen UID:
1842957
Concept ID:
C5681365
Congenital Abnormality
Synonyms: isolated syndactyly; non-syndromic syndactyly; nonsyndromic syndactyly; symphalangism; symphalangy; syndactyly; webbing of digits
 
Monarch Initiative: MONDO:0019530
Orphanet: ORPHA90025

Definition

A group of rare, congenital, non-syndromic distal limb malformation disorders characterized by webbing or fusion of the fingers or toes, involving soft parts only or including bone structure. The morphological anomaly can be unilateral or bilateral, symmetrical or asymmetrical, depending on the specific type. [from ORDO]

Professional guidelines

PubMed

Harada A, Miyashita S, Nagai R, Makino S, Murotsuki J
Congenit Anom (Kyoto) 2019 Jul;59(4):132-141. Epub 2018 Sep 5 doi: 10.1111/cga.12308. PMID: 30132994

Recent clinical studies

Etiology

Malik S, Ahmad W, Grzeschik KH, Koch MC
Genet Couns 2005;16(3):229-38. PMID: 16261692

Diagnosis

Malik S, Ahmad W, Grzeschik KH, Koch MC
Genet Couns 2005;16(3):229-38. PMID: 16261692

Prognosis

Ngoc NT, Duong NT, Quynh DH, Ton ND, Duc HH, Huong LTM, Anh LTL, Hai NV
Clin Chim Acta 2020 Jul;506:16-21. Epub 2020 Mar 9 doi: 10.1016/j.cca.2020.03.017. PMID: 32165123

Clinical prediction guides

Ngoc NT, Duong NT, Quynh DH, Ton ND, Duc HH, Huong LTM, Anh LTL, Hai NV
Clin Chim Acta 2020 Jul;506:16-21. Epub 2020 Mar 9 doi: 10.1016/j.cca.2020.03.017. PMID: 32165123

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