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Diseases involving the MANDIBLE.

A hereditary disorder occurring in two forms: the complete form (Franceschetti's syndrome) is characterized by a slant of the palpebral fissures, COL…

An autosomal dominant disorder of CONNECTIVE TISSUE with abnormal features in the heart, the eye, and the skeleton. Cardiovascular manifestations inc…

Diseases involving the MAXILLA.

Congenital structural deformities, malformations, or other abnormalities of the maxilla and face or facial bones.

SKELETAL MUSCLE pain and tenderness along the posteromedial TIBIA resulting from exercise such as running and other physical activity.

A congenital abnormality in which the occipitofrontal circumference is greater than two standard deviations above the mean for a given age. It is ass…

A mitochondrial disorder characterized by focal or generalized seizures, episodes of transient or persistent neurologic dysfunction resembling stroke…

A form of osteosclerosis extending in a linear track mainly through one of the long bones of the upper and lower limbs.

A mitochondrial encephalomyopathy characterized clinically by a mixed seizure disorder, myoclonus, progressive ataxia, spasticity, and a mild myopath…

A foot anomaly in which the forefoot is angled outward relative to the hindfoot.

Pain in the region of the METATARSUS. It can include pain in the METATARSAL BONES; METATARSOPHALANGEAL JOINT; and/or intermetatarsal joints (TARSAL J…

A foot anomaly in which the forefoot (METATARSUS) is angled inward relative to the heel.

A congenital abnormality in which the CEREBRUM is underdeveloped, the fontanels close prematurely, and, as a result, the head is small. (Desk Referen…

Abnormally small jaw.

A heterogenous group of disorders characterized by alterations of mitochondrial metabolism that result in muscle and nervous system dysfunction. Thes…

A group of muscle diseases associated with abnormal mitochondria function.

A syndrome with overlapping clinical features of systemic lupus erythematosus, scleroderma, polymyositis, and Raynaud's phenomenon. The disease is di…

Fracture in the proximal half of the shaft of the ulna, with dislocation of the head of the radius.

A nerve inflammation in the foot caused by chronic compression of the plantar nerve between the METATARSAL BONES.

A group of inherited metabolic diseases characterized by the accumulation of excessive amounts of acid mucopolysaccharides, sphingolipids, and/or gly…

Growth failure from birth that is due to mutations in a gene (TRIM37) on chromosome 17q22-q23 which encodes a RING-B-box-coiled-coil protein.

A sustained and usually painful contraction of muscle fibers. This may occur as an isolated phenomenon or as a manifestation of an underlying disease…

Continuous involuntary sustained muscle contraction which is often a manifestation of BASAL GANGLIA DISEASES. When an affected muscle is passively st…

A form of muscle hypertonia associated with upper MOTOR NEURON DISEASE. Resistance to passive stretch of a spastic muscle results in minimal initial …

Primarily an observable or examinable clinical manifestation rather than a disease entity.

Acquired, familial, and congenital disorders of SKELETAL MUSCLE and SMOOTH MUSCLE.

Disorders characterized by an abnormal reduction in muscle volume due to a decrease in the size or number of muscle fibers. Atrophy may result from d…

A heterogeneous group of inherited MYOPATHIES, characterized by wasting and weakness of the SKELETAL MUSCLE. They are categorized by the sites of MUS…

A heterogenous group of inherited muscular dystrophy that can be autosomal dominant or autosomal recessive. There are many forms (called LGMDs) invol…