MedGen

A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from NCI]

Neurodevelopmental disorder is a behavioral and cognitive disorder with onset during the developmental period that involves impaired or aberrant development of intellectual, motor, or social functions. [from SNOMEDCT_US]

A severe form of respiratory insufficiency characterized by inadequate gas exchange such that the levels of oxygen or carbon dioxide cannot be maintained within normal limits. [from HPO]

A disease of the brain characterized by an enduring predisposition to generate epileptic seizures. [from SNOMEDCT_US]

Myopathy caused by pathogenic variants in SELENON that is congenital or present early in childhood with neonatal hypotonia, delayed motor development, axial muscle weakness, scoliosis, and significant respiratory involvement. Spinal rigidity of varying severity is often present. [from MONDO]

Disease that is characterised clinically by neonatal hyperpigmentation, hypoglycaemia, failure to thrive, and recurrent infections and biochemically by glucocorticoid deficiency without mineralocorticoid deficiency. The disease usually presents in infancy or early childhood. Hypoglycaemic crises resulting in convulsions can lead to coma or death if untreated and recurrent hypoglycaemia may lead to neurological sequelae. Most cases are caused by defects in the adrenocorticotropin receptor, or its signalling pathway resulting in a failure of the cells of zona fasciculata in the adrenal cortex to respond appropriately to adrenocorticotrophic hormone, leading to a glucocorticoid deficiency. These defects are most commonly caused by mutations in MC2R (18p11.2) and MRAP (21q22.1). Other mutations reported include MCM4 (8q12-q13), NNT (5p12) and TXNRD2 (22q11.21). Inherited in an autosomal recessive manner. [from SNOMEDCT_US]

Rigid spine muscular dystrophy (RSMD) is a form of congenital muscular dystrophy. Disorders in this group cause muscle weakness and wasting (atrophy) beginning very early in life. In particular, RSMD involves weakness of the muscles of the torso and neck (axial muscles). Other characteristic features include spine stiffness and serious breathing problems.

In RSMD, muscle weakness is often apparent at birth or within the first few months of life. Affected infants can have poor head control and weak muscle tone (hypotonia), which may delay the development of motor skills such as crawling or walking. Over time, muscles surrounding the spine atrophy, and the joints of the spine develop deformities called contractures that restrict movement. The neck and back become stiff and rigid, and affected children have limited ability to move their heads up and down or side to side. Affected children eventually develop an abnormal curvature of the spine (scoliosis). In some people with RSMD, muscles in the inner thighs also atrophy, although it does not impair the ability to walk.

A characteristic feature of RSMD is breathing difficulty (respiratory insufficiency) due to restricted movement of the torso and weakness of the diaphragm, which is the muscle that separates the abdomen from the chest cavity. The breathing problems, which tend to occur only at night, can be life-threatening. Many affected individuals require a machine to help them breathe (mechanical ventilation) during sleep.

The combination of features characteristic of RSMD, particularly axial muscle weakness, spine rigidity, and respiratory insufficiency, is sometimes referred to as rigid spine syndrome. While these features occur on their own in RSMD, they can also occur along with additional signs and symptoms in other muscle disorders. The features of rigid spine syndrome typically appear at a younger age in people with RSMD than in those with other muscle disorders. [from MedlinePlus Genetics]

Inflammation of the thyroid gland. [from HPO]

A tumor (abnormal growth of tissue) of the thyroid gland. [from HPO]

A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain. [from HPO]

A disorder of muscle unrelated to impairment of innervation or neuromuscular junction. [from HPO]

Familial glucocorticoid deficiency is a rare autosomal recessive disorder characterized by an inability of the adrenal cortex to produce cortisol in response to stimulation by adrenocorticotropic hormone (ACTH). Affected individuals typically present within the first few months of life with symptoms related to cortisol deficiency, including failure to thrive, recurrent illnesses or infections, hypoglycemia, convulsions, and shock. The disease is life-threatening if untreated (summary by Meimaridou et al., 2012). For a discussion of genetic heterogeneity of familial glucocorticoid deficiency, see GCCD1 (202200). [from OMIM]

An inherited metabolic disease that is has its basis in the disruption of thyroid hormone metabolic process. [from MONDO]

A convulsive seizure disorder observed in an isolated tribe in the interior of Tanzania. It is a chronic degenerative disorder of the central nervous system associated with seizures and other neurological complications, characteristic facies, psychomotor retardation, and pachyderma. Kifafa is a Swahili word meaning ""being half-dead and rigid."" [from MCA/MR]