Tripartite thumb polysyndactyly syndrome

Classification according to ICD-10
Q69.1	Accessory thumb (s)
ICD-10 online (WHO version 2019)

The tripartite thumb polysyndactyly syndrome or preaxial polydactyly type 2 is a congenital malformation syndrome of the hand and foot with a finger-like tripartite thumb and optional additional duplication of thumb elements. There is an association with Holt-Oram syndrome and Fanconi anemia .

Thumb constructed like the other fingers

distribution

The frequency is given as less than 1 in 1,000,000, inheritance is autosomal dominant with complete penetrance and variable expressivity.

root cause

The disease are mutations in LMBR1 - gene at 7q36.3 location based.

Clinical manifestations

In addition to the three-part, normally functional thumb, there is a polydactyly , possibly also a syndactyly . Similar, less pronounced changes can also be found on the big toe. The extent can vary within a family.

literature

• L. Dai, H. Guo, H. Meng, K. Zhang, H. Hu, H. Yao, Y. Bai: Confirmation of genetic homogeneity of syndactyly type IV and triphalangeal thumb-polysyndactyly syndrome in a Chinese family and review of the literature. In: European Journal of Pediatrics. Vol. 172, No. 11, November 2013, pp. 1467-1473, ISSN  1432-1076 . doi: 10.1007 / s00431-013-2071-y . PMID 23793141 . (Review).

Individual evidence

1. ↑ ^{a b c} Tripartite thumb polysyndactyly syndrome. In: Orphanet (Rare Disease Database).
2. ↑ Tripartite thumb polysyndactyly syndrome.  In: Online Mendelian Inheritance in Man . (English)

This article is about a health issue. It is not used for self-diagnosis and does not replace a diagnosis by a doctor. Please note the information on health issues !