The presence of an abnormal lateral curvature of the spine. Term Hierarchy. Abnormality of the musculoskeletal system Abnormality of the skeletal system Abnormal skeletal morphology Abnormal axial skeleton morphology Abnormality of the vertebral column Abnormal curvature of the vertebral column Scoliosis Compensatory scoliosis Congenital postural scoliosis Progressive congenital scoliosis Thoracolumbar scoliosis Lumbar scoliosis.
Conditions with this feature. Most individuals have skeletal anomalies e. Peak incidence is at age one to two years. Cleidocranial dysplasia CCD spectrum disorder is a skeletal dysplasia that represents a clinical continuum ranging from classic CCD triad of delayed closure of the cranial sutures, hypoplastic or aplastic clavicles, and dental abnormalities to mild CCD to isolated dental anomalies without the skeletal features.
Most individuals come to diagnosis because they have classic features. At birth, affected individuals typically have abnormally large, wide-open fontanelles that may remain open throughout life. Clavicular hypoplasia can result in narrow, sloping shoulders that can be opposed at the midline. Moderate short stature may be observed, with most affected individuals being shorter than their unaffected sibs.
Dental anomalies may include supernumerary teeth, eruption failure of the permanent teeth, and presence of the second permanent molar with the primary dentition. Individuals with CCD spectrum disorder are at increased risk of developing recurrent sinus infections, recurrent ear infections leading to conductive hearing loss, and upper-airway obstruction. Intelligence is typically normal. Cri-du-chat syndrome was first described by Lejeune et al.
The deletions can vary in size from extremely small and involving only band 5p Dejerine-Sottas neuropathy is a demyelinating peripheral neuropathy with onset in infancy. It can show autosomal dominant or recessive inheritance. Affected individuals have delayed motor development due to severe distal motor and sensory impairment, resulting in difficulties in gait.
