Congenital Muscle Abnormalities

By Simeon A. Boyadjiev Boyd, MD, University of California Davis;UC Davis Children's Hospital

NOTE: This is the Professional Version. CONSUMERS: Click here for the Consumer Version

Congenital Craniofacial and Musculoskeletal Abnormalities
Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities
Arthrogryposis Multiplex Congenita
Common Congenital Limb Defects
Congenital Craniofacial Abnormalities
Congenital Hip, Leg, and Foot Abnormalities
Congenital Muscle Abnormalities
Congenital Neck and Back Abnormalities

Individual muscles or groups of muscles may be absent or incompletely developed at birth. Muscle abnormalities can occur alone or as part of a syndrome.

Partial or complete agenesis of the pectoralis major is common and occurs alone or with ipsilateral hand abnormalities and various degrees of breast and nipple aplasia, as in Poland syndrome. Poland syndrome may be associated with Möbius syndrome (paralysis of the lower cranial nerves, especially the 6th, 7th, and 12th), which has been linked to autism.

In prune-belly syndrome (see Prune-Belly Syndrome), ≥ 1 layers of the abdominal musculature are absent at birth; this often occurs with severe GU abnormalities, particularly hydronephrosis. Incidence is higher in males who often also have bilateral undescended testes. Malformations involving the feet and rectum also often coexist. Prognosis is guarded, even with early relief of urinary tract obstruction.

Treatment depends on severity of the condition and can range from minimal intervention to reconstructive surgery.

Last full review/revision March 2014 by Simeon A. Boyadjiev Boyd, MD