Information

Upper limb abnormalities:


Upper limb abnormalities:

Major limb defects are almost always found in the upper limbs. Often, the right side is the more affected side (115,116). Major limb abnormalities may include:

  • An absent forearm
  • Atypical connection of the bones in the forearm (radioulnar synostosis)
  • Missing radius or ulna (bones in the forearm)
  • Underdevelopment of the radius bone or radial dislocation (117)
  • Fewer than five fingers or toes on a hand or foot (oligodactyly)
  • More than five fingers or toes on a hand or foot (Polydactyly)
  • Small hands

Minor limb abnormalities such as proximally based thumbs (thumbs attached close to wrists) or curvature of the little finger (clinodactyly) are common in CdLS (3,115,116,117,118). Research has indicated an association between major limb abnormalities, organ abnormalities and more marked intellectual disability. It is likely that the association can be explained by a change to the NIPBL gene in individuals with CdLS with major limb abnormalities (3,25,115,118).

Physical function is usually remarkably good in individuals with CdLS who have major limb abnormalities. Therefore, physical therapy (physiotherapy) or surgical procedures are usually not required (R43). Prosthetic devices may be used to aid physical function, however, individuals with CdLS may find difficulty tolerating them. Specific devices, such as devices enabling independent eating, are available and usually tolerated (R44). When considering the treatment of musculoskeletal (muscle and skeleton) problems in CdLS, parents and doctors should consider the individuals prognosis regarding development and mobility (R45). Minor limb abnormalities usually do not require therapeutic interventions.

Find other pages that share the same topic as this page Upper limb abnormalities:3
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam
Antonie D. Kline, Joanna F. Moss, […]Raoul C. Hennekam

Adapted from: Kline, A. D., Moss, J. F., Selicorni, A., Bisgaard, A., Deardorff, M. A., Gillett, P. M., Ishman, S. L., Kerr, L. M., Levin, A. V., Mulder, P. A., Ramos, F. J., Wierzba, J., Ajmone, P.F., Axtell, D., Blagowidow, N., Cereda, A., Costantino, A., Cormier-Daire, V., FitzPatrick, D., Grados, M., Groves, L., Guthrie, W., Huisman, S., Kaiser, F. J., Koekkoek, G., Levis, M., Mariani, M., McCleery, J. P., Menke, L. A., Metrena, A., O’Connor, J., Oliver, C., Pie, J., Piening, S., Potter, C. J., Quaglio, A. L., Redeker, E., Richman, D., Rigamonti, C., Shi, A., Tümer, Z., Van Balkom, I. D. C. and Hennekam, R. C. (2018).

Page history
Last modified by Gerritjan Koekkoek on 2022/09/29 16:10
Created by Gerritjan Koekkoek on 2019/03/27 15:09

                                                                                                                                                                                                                                                                                                                                                                                                                                               


  

About the website contents

All of the information on this WebSite is for education purposes only. The place to get specific medical advice, diagnoses, and treatment is your doctor. Use of this site is strictly at your own risk. If you find something that you think needs correction or clarification, please let us know at: 

Send a email: info@cdlsWorld.org