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.

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 Juli 2018

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