Dorfman-Chanarin-Syndrom describes an autosomal recessive metabolic disease that causes disorders in the storage of triacylglycerides. These are mainly stored in the leucocytes, fibroblasts, muscles and the liver.
DOOR syndrome describes the combination of deafness, bone deformities, nail dystrophy and mental retardation. Some patients additionally suffer from epilepsy.
Diastrophic dysplasia is a rare congenital skeletal dysplasia characterized by disproportionated dwarfism with short extremities and joint malformations.
Desbuquois syndrome describes an autosomal recessive inherited skeletal dysplasia. Characteristic is a prenatal onset, mesomel and rhizomelic shortened limbs, hyperextensible joints, typical facial dysmorphism and kyphoscoliosis.
Ichthyosis follicularis-alopecia-photophobia syndrome is an X-linked hereditary disease with the three cardiac symptoms: ichthyosis (ichthyosis follicularis), alopecia and photophobia.
Denys-Drash syndrome is the combination of diffuse mesangial sclerosis, neuroblastoma and male pseudohermaphroditism.
The x-linked sideroblastic anemia describes a microcytic, hypochromic anemia whose severity can vary greatly.
The small intestinal atresia describes a developmental disorder of the small intestine. The lumen of the jejunum or ileum is not continuous due to the absence of a portion of the intestines or a membrane that bulges into the intestine like a bag.
Dent disease is characterized by a low molecular weight proteinuria, hypercalciuria, proximal tubule dysfunction, and a progressive renal failure.
Van Buchem syndrome is one of SOST-associated sclerosing bone dysplasias associated with sclerosis.
Delleman syndrome is a congenital malformation syndrome characterized by orbital cysts or periorbital dermal tags, partial anophthalmia or microphthalmia, massive brain malformations, and focal dermal hypo- or aplasia.
Cystic fibrosis or mucoviscidosis is an autosomal recessive metabolic disease characterized by the production of high salt sweat and secretion of mucus with abnormal viscosity.
Cushing syndrome is a series of symptoms triggered by a permanently elevated cortisol level. A distinction is made between endogenous and exogenous forms.
Cronkhite-Canada syndrome is a so called gastrointestinal polyposis syndrome, a non-inheritable disorder of the digestive tract of unknown cause.
The crisscross heart, also called "crossed heart", describes a congenital heart defect.
Crane-Heise syndrome is a very rare disorder characterized by an insufficiently mineralized skullcap, vertebral anomalies, missing clavicles and cranio-facial dysmorphism.
Costello syndrome is a very rare malformative syndrome associated with RASopathies. It is characterized by magnified, characteristic facial features, lack of talent, postnatal growth retardation, skin abnormalities and heart defects.
The X-linked dominant chondrodysplasia punctata, also known as Conradi-Hünermann-Happle syndrome, is a rare skeletal dysplasia marked by scoliosis with a short stature and asymmetrical shortening of the limbs.
Cole disease belongs to the congenital diseases with keratoderma punctata, and hyperkeratosis on the palms and soles of the feet.
The Coffin-Siris Syndrome describes a combination of hypoplastic phalanges with nail hypoplasia, short stature and mental retardation.