Ch. 14 Genetic and Developmental Disorders Updated Feb

Down syndrome

A genetic disorder attributed to a chromosomal deviation, specifically trisomy 21, characterized by intellectual disability and various physical abnormalities.

Trisomy 21

A chromosomal condition where an individual has three copies of chromosome 21 instead of the normal two, which is the cause of Down syndrome.

Karyotype

The number and appearance of chromosomes in the nucleus of a cell; a karyotype with 47 chromosomes indicates Down syndrome.

Congenital heart defects

Structural problems with the heart that are present at birth, commonly associated with Down syndrome.

Autism Spectrum Disorder (ASD)

A group of complex developmental disorders characterized by difficulties in social interaction, communication, and repetitive behaviors.

Echolalia

The automatic repetition of vocalizations made by another person, often seen in individuals with Autism Spectrum Disorder.

Scoliosis

An abnormal lateral curvature of the spine which can have various causes and may lead to physical deformities and discomfort.

Structural scoliosis

A fixed curvature of the spine that is associated with vertebral rotation and asymmetry of supporting structures.

Spina bifida

A congenital defect occurring when the neural tube fails to close completely, resulting in exposure of the spinal cord.

Folic acid

A B vitamin essential for proper neural tube closure during fetal development; deficiency is associated with congenital neural tube defects.

Muscular dystrophy

A group of inherited progressive neuromuscular disorders characterized by degeneration of muscle fibers and progressive muscle weakness.

Duchenne’s muscular dystrophy

A severe type of muscular dystrophy caused by the absence of dystrophin, leading to gradual muscle degeneration.

Gower’s sign

A clinical sign where a child uses their hands to walk up their body to stand, indicative of proximal muscle weakness.

Osteogenesis imperfecta

A rare congenital disorder characterized by brittle bones due to defective collagen synthesis.

Arthrogryposis Multiplex Congenita

A condition present at birth characterized by joint contractures that result from decreased fetal movement.

Pressure against the sac

A critical consideration in patient care, particularly for individuals with certain conditions, to avoid complications.

Klumpke's Palsy

A rare paralysis of the lower arm due to injury of the lower trunks of the brachial plexus, affecting nerve roots C8 and T1.

Hypotonia

Decreased muscle tone, often observed in various developmental disorders, including Down syndrome and muscular dystrophies.

Sensory impairment

Loss or decrease of the ability to perceive sensory stimuli, common in individuals with various genetic conditions.