Congenital malformations, deformities, and chromosomal abnormalities (Q00-Q99).
- Arnold-Chiari syndrome, type I – group of developmental disorders with displacement of cerebellar parts through the foramen magnum (occipital hole) with concomitant reduced posterior fossa into the spinal canal (vertebral canal); type 1: Here, there is displacement of the cerebellar tonsils (part of the cerebellum; belong to the neocerebellum, which makes up most of the cerebellum). As a complication, syringomyelia (cavity formation in the gray matter of the spinal cord) may occur. Causes: heterogeneous, mostly unknown, autosomal recessive? ; polygenic causes with involvement of endogenous-teratogenic factors are discussed.
- Arthrogryposis multiplex congenita (AMC) – congenital joint stiffness (dysmorphia); this term includes several genetic disorders characterized by joint dislocations and stiffening; inheritance autosomal recessive.
- Diastematomyelia – group of congenital malformations of the skull, spine and spinal cord, in which the neural plate of the embryo does not close into a tube as usual, but remains more or less open until birth; sporadic occurrence.
- Ehlers-Danlos syndrome (EDS) – genetic disorders that are both autosomal dominant and autosomal recessive; heterogeneous group caused by a disorder of collagen synthesis; characterized by increased elasticity of the skin and unusual tearability of the same (habitus of the “rubber man”)
- Embryopathies of all kinds
- Klinefelter syndrome – genetic disease with mostly sporadic inheritance: numerical chromosomal aberration (aneuploidy) of the sex chromosomes (gonosomal anomaly), which occurs only in boys or Men occurs; in the majority of cases characterized by a supernumerary X chromosome (47, XXY); clinical picture: large stature and testicular hypoplasia (small testis), caused by hypogonadotropic hypogonadism (gonadal hypofunction); here usually spontaneous onset of puberty, but poor pubertal progress.
- Klippel-Feil syndrome (synonym: congenital cervical synostosis) – rare, congenital syndrome from a malformation of the cervical spine and possible other malformations; sporadic occurrence.
- Marfan syndrome – genetic disease that can be inherited both autosomal dominant or occur sporadically (as a new mutation); systemic connective tissue disease, which is notable primarily for tall stature, spider limbs and hyperextensibility of the joints; 75% of these patients have an aneurysm (pathological (pathological) bulge of the arterial wall).
- Myelomeningocele – protrusion of a section of the spinal cord due to a defect in the spine.
- Trisomy 21 (Down syndrome) – special genomic mutation in humans in which the entire 21st chromosome or parts of it are present in triplicate (trisomy). In addition to physical characteristics considered typical for this syndrome, the cognitive abilities of the affected person are usually impaired
- Turner syndrome (synonyms: Ullrich-Turner syndrome, UTS) – genetic disorder that usually occurs sporadically; girls / women with this particularity have only one functional X chromosome instead of the usual two (monosomy X); inter alia. Among other things, with an anomaly of the aortic valve (33% of these patients have an aneurysm/diseased bulging of an artery); it is the only viable monosomy in humans and occurs approximately once in 2,500 female newborns.
- Fetopathies (damage to the fetus/unborn) of all kinds.
Endocrine, nutritional and metabolic diseases (E00-E90).
- Homocystinuria – collective name for a group of autosomal recessive hereditary metabolic disorders that result in increased concentrations of the amino acid homocysteine in the blood and homocystine in the urine, leading to symptoms similar to Marfan syndrome.
Musculoskeletal system and connective tissue (M00-M99).
- Adolescent scoliosis – adult-onset scoliosis.
- Fibrodysplasia ossificans progressiva (FOP; synonyms: Fibrodysplasia ossificans multiplex progressiva, Myositis ossificans progressiva, Münchmeyer syndrome) – genetic disease with autosomal dominant inheritance; describes the pathological, progressive ossification (ossification) of the connective and supporting tissues of the human body, which leads to an ossification of the musculature; already at birth, shortened and twisted big toes are present as a non-specific symptom.
- Infantile scoliosis – scoliosis occurring in children.
- Juvenile scoliosis – scoliosis occurring in adolescents.
- Paresebedinge (paralysis-related) scoliosis.
- Posttraumatic scoliosis
- Infantile scoliosis
Psyche – nervous system (F00-F99; G00-G99)
- Infantile spinal paralysis Werdnig-Hoffmann – genetic disease leading to muscle wasting.
- Friedreich’s ataxia (FA; Friedreich’s disease) – genetic disease with autosomal recessive inheritance; degenerative disease of the central nervous system leading, among other things, to movement disorder; most common hereditary form of ataxia (movement disorder); disease generally sets in during childhood or early adulthood.
- Syringomyelia – rare disease of the spinal cord; the disease may be due to a developmental disorder or may develop after an injury, tumor, or inflammation. In this case, a cavity is found in the gray of the spinal cord, especially the cervical and thoracic medulla.
