Trismus-pseudocamptodactyly syndrome refers to a condition that results in restricted mouth opening (trismus) and flexion contractures of the fingers.
Trichothiodystrophy describes a group of diseases characterized by short, brittle, low-sulfur hair.
Trichorhinophalangeal syndrome is a rare congenital malformation syndrome with chromosome 8 deletion.
Transaldolase deficiency belongs to the metabolic diseases.
The Transaldolasemangel belongs to the metabolic diseases.
The tracheoesophageal fistula is a connection between the esophagus and the esophagus.
The tracheobronchopathia osteochondroplastica affects the large airways and is characterized by the formation of multiple bony and cartilaginous nodules in the submucosa of the trachea and the main branches of the bronchi.
Tibial hemimelia is a unilateral or bilateral aplasia or tibial hypoplasia of the intact fibula.
Tibial aplasia-ectrodactyly syndrome describes the absence or underdevelopment of the tibia associated with ectrodactual limb malformations.
Thanatophoric dysplasia is a common etiology of fetal dysplasia, which is characterized by micromelia, macrocephaly, and narrow thorax.
Thalassemias are a group of genetic disorders of the erythrocytes that cause defective hemoglobins due to a disruption in the synthesis of globin chains.
Bipartite talus is a rare ossification disorder in which there is already a talar column at birth. The usual way is the gap in the sagittal plane.
Scleroderma is an autoimmune disease from the group of collagenases. It is a chronic generalized disease associated with inflammation and connective tissue proliferation.
Systemic mastocytosis is a heterogeneous group of disorders, especially in European adults, caused by too many mast cells in the body. The genetic basis of the disease is a mutation in the growth receptor KIT, which leads to an uncontrolled activation of the receptor.
Systemic-onset juvenile idiopathic arthritis, or Still disease, is the systemic form of juvenile idiopathic arthritis.
Epidermal nevus syndrome (ENS) refers to a congenitally manifested syndrome in which epidermal nevi are associated with various developmental disorders of the skeletal, nervous, urogenital and cardiovascular systems and the eyes.
Embryonary disorganization syndrome is a complex malformation syndrome in which hamartomatous lesions, supernumerary and ectopic limbs, and duplication of internal organs occurs.
Susac syndrome is characterized by the combination of central nervous system dysfunction with occlusion of side branches of the retinal artery (BRAO) and sensory-neural deafness (SNHL).
Succinic semialdehyde dehydrogenase deficiency is an autosomal recessive metabolic disease with nonspecific clinical presentation.
Subcorneal pustular dermatosis is a chronic, benign disease characterized by sterile, pustular eruptions.