Rhizomelic chondrodysplasia punctata is a form of chondrodysplasia punctata, a group of congenital diseases that lead to punctiform calcifications of cartilage tissue on the joints, larynx and trachea.
Cherubism is a rare benign congenital fibro-osseous jaw disease of childhood.
Chediak-Higashi syndrome (CHS) is characterized by oculo-cutaneous albinism, silvery-blond hair, ganglion hypertrophy, hepatosplenomegaly, and recurrent purulent skin and respiratory infections.
Cerebrotendinous xanthomatosis is a metabolic disease that is usually inherited on an autosomal recessive pathway.
CEDNIK syndrome is a neurocutaneous syndrome characterized by severe nervous system developmental disorders, keratoderma and hyperkeratosis of the epidermis.
Craniosynostosis-anal anomalies-porokeratosis syndrome or CDAGS syndrome is characterized by craniosynostosis and clavicle hypoplasia (C), late fontanel closure (D), anal malformations (A), genitourinary tract abnormalities (G), and rash (S).
Catel-Manzke syndrome is a bone disorder with bilateral hyperphalangia and clinodactyly of the index finger. Typically it is associated with the symptoms of the Pierre-Robert sequence, including microgia, cleft palate, and glossoptosis.
Carpenter syndrome is one of the genetic acrocephalopolysyndactyls. Characteristic symptoms include anomalies of the head, including a short outward skull and downward eyelid, low-set ears, a flat bridge of the nose, small jaw and a high and narrow palate.
Carney-Stratakis syndrome is a congenital disorder characterized by the combination of gastrointestinal stromal tumors (GIST) and paragangliomas.
Carey-Fineman-Ziter syndrome describes the combination of hypotonia, Moebius sequence and Pierre-Robin sequence.
Cryopyrine-associated periodic syndrome (CAPS) refers to a group of three autoinflammatory diseases that share a common genetic basis.
Cantrell syndrome describes the simultaneous occurrence of 5 main symptoms: the supraumbilical midline defect of the abdominal wall, the absence of anterior diaphragmatic plexuses, pericardial defects near the pelvis, abnormalities of the lower part of the sternum and congenital heart defects.
Canavan disease (CD) is a neurodegenerative disease of the CNS that usually results in death.
Camurati-Engelmann disease is a bone dysplasia syndrome characterized by hyperostosis of the skull, spine, pelvis and long bones.
CADASIL is a autosomal dominant inherited cerebrovascular disease.
B-cell ALL is a subgroup of acute lymphoblastic leukemia. It is characterized by proliferation and accumulation of malignant degenerated, immature cells of hematopoiesis, so-called blasts in bone marrow and blood.
Tufted angioma is a vascular tumor.
Boomerang dysplasia syndrome is a lethal skeletal dysplasia.
Brown-Vialetto-van Laere syndrome is a motor neuron disorder in which patients suffer from respiratory failure, aural deafness, and progressive ponto-bulbar paralysis.
Brachyolmia refers to a group of autosomal recessive or dominant hereditary skeletal dysplasias exclusively involving the spine.