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.
Cobb syndrome is characterized by a combination of venous and arterio-venous vascular lesions of the skin with arterio-venous lesions of the muscles, medulla, bones in the same spinal segment or metamer.
CINCA syndrome is a multisystem disorder and the most severe form of cryopyrin-associated periodic syndrome (CAPS).