(See also Introduction to Congenital Craniofacial and Musculoskeletal Disorders Introduction to Congenital Craniofacial and Musculoskeletal Abnormalities Craniofacial and musculoskeletal abnormalities are common among children. They may involve only a single, specific site (eg, cleft lip, cleft palate, clubfoot) or be part of a syndrome of multiple... read more .)
Vertebral anomalies can be singular or part of a syndrome.
Imaging tests are typically done. Chromosomal microarray analysis Diagnosis Chromosomal anomalies cause various disorders. Anomalies that affect autosomes (the 22 paired chromosomes that are alike in males and females) are more common than those that affect sex chromosomes... read more , specific gene tests, or broader gene panel tests should be considered. If the results of these tests are nondiagnostic, whole exome sequencing analysis is recommended.
Congenital torticollis
The head becomes tilted at or soon after birth.
The most common cause is
Neck injury during delivery
Torticollis that develops within the first few days or weeks of life may result from an injury that causes a hematoma, with subsequent fibrosis and contracture of the sternocleidomastoid (SCM) muscle. A nontender mass may be noted in the SCM, usually in the midsegment. Torticollis is a frequent cause of plagiocephaly (flattening of one side of the head) and asymmetric facies (see Cervical Dystonia Cervical Dystonia Cervical dystonia is characterized by involuntary tonic contractions or intermittent spasms of neck muscles. The cause is usually unknown. Diagnosis is clinical. Treatment can include physical... read more ).
Other causes of congenital torticollis include spinal abnormalities, such as Klippel-Feil syndrome (fusion of the cervical vertebrae, short neck, and low hairline, often with urinary tract abnormalities) or atlanto-occipital fusion. Specific gene defects (eg, mutations in GDF6, GDF3, and MEOX1) may be involved. Central nervous system tumors, bulbar palsies, and ocular dysfunction are common neurologic causes but are rarely present at birth. Fractures, dislocations, or subluxations of the cervical spine (especially C1 and C2) or odontoid abnormalities are rare but serious causes; permanent neurologic damage may result from spinal cord injury.
Cervical imaging should be done to exclude bony causes, which may require stabilization.
When torticollis is due to birth trauma, frequent passive SCM stretching (rotating the head and stretching the neck laterally to the opposite side) is indicated. Injections of botulinum toxin into the SCM may help in refractory cases.
Congenital vertebral defects
Examples are idiopathic scoliosis Idiopathic Scoliosis Idiopathic scoliosis is lateral curvature of the spine. Diagnosis is clinical and includes spinal x-rays. Treatment depends on the severity of the curvature. Idiopathic scoliosis is the most... read more 
, which is rarely apparent at birth, and isolated vertebral defects (eg, hemivertebrae, wedge or butterfly vertebrae), which are more likely to be diagnosed at birth. Vertebral defects should be suspected when posterior midline cutaneous, renal, or congenital lower-limb abnormalities exist. Some syndromes or associations such as VACTERL (vertebral anomalies, anal atresia, cardiac malformations, tracheoesophageal fistula, renal anomalies and radial aplasia, and limb anomalies) include vertebral defects. Alagille syndrome manifests with butterfly vertebrae, jaundice due to hypoplastic bile ducts, and congenital heart defects. Ovoid vertebrae are present in mucopolysaccharidosis and several other storage disorders.
As children grow, the spinal curve caused by a vertebral defect or defects can progress rapidly; therefore, the spine should be monitored closely. Braces or body jackets, which may have to be worn 18 hours/day, are often necessary initially. Surgery may be needed if the curvature progresses. Because renal abnormalities commonly coexist, renal ultrasonography is indicated for initial screening.
