The musculoskeletal system

The musculoskeletal system

Children and adults with CdLS usually receive rehabilitation services across their lifespan. Adaptive equipment can help enhance individuals motor functions and mobility, increasing their quality of life. Equipment may include orthotics (e.g. splints and braces), tripods (walking stick), and wheelchairs. Safety equipment (for example, helmets, door alarms and seat belt harnesses) limits the risk of injuries and should be considered for every individual with CdLS.

Musculoskeletal problems are common in CdLS. Major limb defects appear to be more frequent in individuals with CdLS caused by a change in the NIPBL gene than in individuals with other changes that cause CdLS (³,¹¹,²⁵,²⁶,¹¹⁵).

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.

Lower limb abnormalities:

Major lower limb abnormalities are rare in CdLS (⁴⁶,¹¹⁹). Approximately half of people with CdLS have minor differences in the length of their legs. Leg length differences should be assessed at regular medical check-ups (R46). A small number of individuals with CdLS have a hip disorder due to reduced blood flow to the thigh bone. Hip dislocations may also occur in later life, especially in individuals who are wheelchair bound or bed-ridden (¹¹⁸). Lower limb abnormalities should be managed in the same way as for the general population. Preventative measures are important and can include physical therapy or orthoses (e.g. a brace or splint to support the limbs). Sometimes Botox injections or surgery can be beneficial (¹²⁰).

Individuals with CdLS frequently experience minor lower limb abnormalities. Individuals may have small feet, toes that are joined together, short fourth toes or inward curving big toes (hallux valgus) (³,¹⁰,⁵⁹). Hallux valgus is often referred to as a ‘bunion’. Bunions are common in adults with CdLS and may cause walking difficulties, though often surgical repair is not required (⁵⁹,¹¹⁸).

Tight hamstrings and Achilles tendons are fairly common in CdLS. Contractures (permanent shortening of a muscle or joint) can also occur in a small number of individuals (⁵⁹,¹¹⁵). Contractures in CdLS usually occur in the knees, elbow and/or hip, which can interfere with movement e.g. sitting, standing and walking (¹¹⁸,¹²²).

Scoliosis:

Scoliosis is a sideways curvature of the spine. It develops in approximately 30% of individuals with CdLS by 10 years of age (¹¹⁸) and is common in adults with decreased mobility (⁵⁹). Scoliosis in CdLS should be assessed at regular medical check-ups (R46). 

Management of scoliosis in CdLS is the same as for the general population and scoliosis surgery appears to be effective. Decisions regarding surgery in CdLS should take the prognosis for development and mobility into account. Spine malformations are very rare in CdLS and usually there are no symptoms (¹²¹).

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).}

Source:

Diagnosis and management in Cornelia de Lange Syndrome: First international consensus statement. Nature Reviews Genetics, 19, 649-666, published on 11 Jul 2018

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Last modified by Gerritjan Koekkoek on 2022/09/29 16:10

Created by Gerritjan Koekkoek on 2019/03/27 15:09