Global InformationVan De Berghe Dequeker syndrome information
| Van Den Berghe Dequeker syndrome | |
|---|---|
| Other names | Severe ulnar aplasia and lobster claw feet, familial ulnar aplasia and lobster claw syndrome, complete absence of the ulna and of fingers 2 to 5, together with lobster-claw deformity of the feet [1] |
 | |
| Specialty | Medical genetics |
| Symptoms | Ectrodactyly of the hand and ulnar aplasia, Split foot malformation |
| Usual onset | Pre-natal |
| Duration | Life-long |
| Causes | Genetic mutation |
| Risk factors | Having parents with the disorder |
| Diagnostic method | Physical evaluation |
| Prevention | None |
| Treatment | Reconstructive surgery or prosthetics [2] |
| Prognosis | Good |
| Frequency | Very rare (< 1 in 1 000 000)[1] |
Van Den Berghe Dequeker syndrome, also known as ulnar hypoplasia-split foot syndrome is a very rare congenital limb malformation syndrome which is characterized by severe ulnar hypoplasia, absence of the index to pinky finger in both hands, and split-foot.[3]
- ^ a b "Ulnar hypoplasia-split foot syndrome". www.orpha.net/consor/cgi-bin/index.php. Retrieved 2022-10-22.
- ^ Aman, Amani; Darby, Louis; Rahmani, MJH (2018-10-08). "lady with 'lobster claw' feet". BMJ Case Rep. 2018: 1–3. doi:10.1136/bcr-2018-226368. PMC 6194423. PMID 30301730.
- ^ Berghe, H.; Dequeker, J.; Fryns, J.; David, G. (2004). "Familial occurrence of severe ulnar aplasia and lobster claw feet: A new syndrome". Human Genetics. 42 (1): 109–113. doi:10.1007/BF00291633. PMID 565745. S2CID 24015752.