CADASIL is a rare genetic disorder that is characterized by migraines, headaches, and multiple strokes in adults and young adults, often without cardiovascular risk factors. CADASIL is caused by...

Calciphylaxis is a life-threatening condition that occurs due to calcium deposition in small blood vessels in the skin and the fatty layer under the skin. This calcification causes the...

Canavan Disease is a rare neurological disorder that is caused by an inherited genetic abnormality which results in the degeneration of the white matter in the brain.The condition begins in infa...

Candida Glabrata is a rare strain of yeast infection of the vaginal area.

CANOMAD Syndrome (Chronic Ataxic Neuropathy, Ophthalmoplegia, Monoclonal IgM protein, cold Agglutinins and Disialosyl antibodies) is a rare chronic immune-mediated demyelinating polyneuropathy.

Carbamoyl Phosphate Synthetase Deficiency is a rare genetic disorder that causes ammonia to accumulate in the blood.

Carcinoid tumors are slow-growing cancers that usually start in the lining of the digestive tract or in the lungs and can sometimes produce excessive amounts of hormonelike substances, resulting in...

Cardio Spondylo Carpo Facial Syndrome 

with gene mutation in MAP3K7

CSCF syndrome

Carney Complex is a hereditary cancer syndrome characterized by spotty skin pigmentation, cardiac (heart) myxomas (tumors composed of mucous connective tissue), skin myxomas, and endocrine gland tu...

Carnitine-Acylcarnitine Translocase Deficiency is a rare genetic disorder that prevents the body from converting long-chain fatty acids into energy.

Caroli Disease is a rare genetic disorder characterized by dilatation of the bile ducts.

Carotid-Cavernous Fistula is an abnormal connection between the arterial and venous systems within the cavernous sinus.

Castleman's Disease is a rare disorder characterized by abnormal non-cancerous growths in lymph node tissue. The lymphatic system moves fluid and distributes white blood cells to t...

Cat-eye syndrome is a rare chromosomal disorder caused by the presence of additional extra copies of a certain portion of chromosome 22 (22pter-22q11, the short arm and a small portion of the lo...

Cat-Scratch Disease is a bacterial disease caused by the intracellular bacterium Bartonella.

Catamenial pneumothorax is a rare condition characterized by the collapse of a lung occurring in conjunction with menstrual periods.

Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a genetic disorder characterized by an arrhythmia (abnormal heart rhythm). As the patient encounters ...

Cavernous Angioma is a vascular disorder of the central nervous system.

Central areolar choroidal dystrophy (CACD) is a hereditary disorder that affects the macula, an area within the eye specialized in the perception of visual...

Central Diabetes Insipidus results from damage to the hypothalamus or pituitary resulting in the feeling of thirst.

Cerebrotendineous Xanthomatosis is a rare genetic disorder associated with the deposition of cholesterol in the brain and other tissues.

Cervical Cancer is a malignant cancer of the cervix, uteri or cervical area.

Char syndrome is a rare genetic disorder that affects the development of the face, heart and limbs. It is characterized by the presence of three symptoms: ...

Charcot-Marie-Tooth disease is an inherited neurological disorder.

CHARGE Syndrome is a rare genetic disorder characterized by: Coloboma of the eye, Heart defects, Atresia of the nasal choanae, Retardation of growth and/or development, Genital and/or urinary abnor...

Chediak-Higashi Syndrome is a rare autosomal recessive disorder caused by a mutation in the lysosomal trafficking regulator gene (LYST).

Cherubism is a rare painless condition involving the bones of the face. The solid bone in the lower part of the skull and jaw (maxilla and mandible) is replaced by fibrous tissue that is less dense...

Childhood-onset degeneration with brain atrophy is a neurodegenerative disorder characterized by a progressive loss of the motor, cognitive and social func...

Cholangiocarcinoma is cancer of the bile ducts, which transfer bile from the liver to the small intestines.

Chondroectodermal Dysplasia is a rare genetic skeletal disorder.

Chordoma is a rare tumor thought to arise from cellular remnants of the notochord.

Choroid Plexus Carcinoma is the malignant form of a choroid plexus tumor which accounts for 10-20 percent of all choroid plexus tumors.

Choroideremia is a rare inherited eye disorder that causes progressive vision loss due to degeneration of the choroid and retina.

Christ-Siemens-Touraine Syndrome is a rare inherited disorder characterized by the absence of sweat and sebaceous glands, underdeveloped hair and teeth, characteristic face and other physical defor...

Chromosome 14 Deletion is a rare chromosomal disorder.

Chromosome 15q11.2 Deletion is a rare genetic disorder.

Chromosome 1p36 Deletion Syndrome is a rare genetic disorder caused by the genetic deletion on the outermost band on the short arm of chromosome 1.

Chromosome 1q Duplication is a rare chromosomal disorder resulting in small stature, growth defiency, global delays, behavior issues, chronic pneumonia, chronic ear infections and hearing loss.

Chromosome 1q21.1 Duplication is a rare genetic abnormality that involves microduplication in the q21.1 area of chromosome 1. It has varying clinical presentations with children having anything fro...

Chromosome 22 Ring is a rare disorder characterized by abnormalities of chromosome 22.

Chromosome 4q Deletion Syndrome is a rare chromosomal disorder where a portion of the 4th chromosome long arm (4q) is deleted. This can occur either in the middle of the chromosome arm (“i...

Chromosome 5p duplication syndrome is a disorder characterized by the duplication of all or part of chromosome 5.

Chromosome 5q deletion syndrome is a rare disorder caused by loss of part of the long arm of chromosome 5.

Chromosome 6q Deletion Syndrome is a rare chromosomal disorder resulting from the deletion of a part of the long arm (q) of chromosome 6.

Chromosome 9q Duplication is a rare genetic disorder resulting in variable motor skills, growth and mental retardation issues.

A family of genetic disorders caused by missing genes in the Y chromosome.

Chronic Autoimmune Hepatitis is a rare chronic inflammatory liver disease.

Chronic Granulomatous Disease (CGD) is a rare inherited immune deficiency affecting the ability of phagocytic cells such as neutrophils, monocytes, macrophages and eosinophils to engulf and dest...

Chronic Inflammatory Demyelinating Polyneuropathy is a rare immune-mediated inflammatory disorder of the peripheral nervous system.

Chronic Lyme Disease occurs in patients who have completed a course of antibiotic treatment for Lyme Disease, yet continue to have symptoms such as severe fatigue, sleep disturbance, and cognitive ...

Chronic Lymphocytic Leukemia (CLL) is a type of cancer that originates in the bone marrow and affects the blood and lymphatic system. It involves the overproduction of abnormal lymphoc...

Chronic Myelogenous Leukemia is a form of leukemia characterized by the unregulated growth of myeloid cells in the bone marrow.

Chronic Myelomonocytic Leukemia is a form of leukemia characterized by an elevated level of circulating monocytes.

Chronic progressive external ophthalmoplegia (CPEO) is a condition characterized mainly by a loss of the muscle functions involved in eye and eyelid movement. Signs and symptoms tend to begin in...

Churg-Strauss Syndrome is a rare medium and small vessel autoimmune vasculitis, leading to necrosis.

Citrullinemia is a rare disorder characterized by the accumulation of ammonia and other toxic substances in the blood.

CLN2 disease, also known as Late-Infantile Neuronal Ceroid Lipofuscinosis (LINCL), is a rare, inherited neurodegenerative disorder. It is part of a broader group of disorders called Neuronal Cer...

Clostridium Difficile is a bacteria causing severe infection of the colon.

Clouston Syndrome is a rare genetic disorder characterized by dystrophy of nails, alopecia,and palmoplantar hyperkeratosis.

CNKSR2 causes seizures and intellectual, attention, and language deficits.  The disease is characterized by intellectual disability, attention problems, and a...

Coats Disease is a rare eye disorder characterized by weak blood vessels behind the retina leading to full or partial blindness.

Cobb Syndrome, also known as Cutaneomeningospinal Angiomatosis, is a rare congenital disorder characterized by the presence of skin lesions and spinal cord deformities. The skin lesions may appe...

Cockayne syndrome is a rare disorder characterized by growth failure, impaired development of the nervous system, photosensitivity, and premature aging.

Coeliac Disease (CD) is an autoimmune disease of the small intestine caused by an intolerance to gluten in genetically predisposed individuals. Gluten is a general name for a group of ...

Coffin-Lowry Syndrome is a rare genetic disorder caused by mutations in the RPS6KA3 gene and characterized by head, facial and skeletal abnormalities and mental retardation.

Cogan Syndrome is a rare disorder characterized by recurrent inflammation of the eye and sometimes fever, fatigue, and weight loss, episodes of dizziness, and hearing loss.

Cohen Syndrome is believed to be a gene mutation at locus 8q22 gene COH1 and is characterized by obesity, mental retardation and craniofacial dysmorphism.

Cold Agglutinin Disease (CAD) is a rare autoimmune hemolytic anemia (destruction of red blood cells) where the immune system mista...

Collagenous Colitis is a rare inflammatory colonic disease.

Combined Malonic and Methylmalonic Aciduria is a rare condition characterized by increased acids in

Under the name of common variable immunodeficiency (CVID) are enclosed a group of disorders of the immune system with different underlying causes but similar symptoms. This syndrome is character...

Complete Androgen Insensitivity Syndrome (CAIS) is a condition where a person who is genetically male (46, XY) is resistant to and...

Cone-Rod Dystrophy (CRD) is a group of inherited eye disorders characterized by the loss of cone photoreceptor cells followed by rod photoreceptor cells in the retina. This leads to a progressiv...

Congenital Adrenal Hyperplasia (CAH) roughly translates to enlargement of the adrenal gland in childhood. This enlargement happens...

Congenital amegakaryocytic thrombocytopenia is a rare disorder characterized by a low number of platelets in the blood.

Congenital anosmia is a rare condition characterized by a complete lack of the ability to smell from birth. Congenital means “from birth” and anosmia is formed from the antithesis of...

Congenital Bilateral Perisylvian Syndrome is a rare neurological disorder characterized by partial paralysis of facial muscles and/or epilepsy.

Congenital cataracts are the opacification of the ocular lens starting at birth.

Congenital Chloride Diarrhea is a rare genetic caused by a mutation on gene SLC26A3. It is a life long diarhhea. Patients need salt substitute NaCl/KCl and gastroenteritis may be serious.

Congenital deficiency of transcobalamin II (TC II deficiency) is a rare genetic disorder affecting the transport of vitamin B12 (cobalamin) into body cells. Transcobalamin II is a key protein th...

Congenital Disorder of Glycosylation is a group of very rare inherited metabolic disorders.

Congenital Dyserythopoietic Anemia is a rare genetic blood disorder.

Congenital Erythropoietic Porphyria (CEP), also known as Günther's disease, is a rare genetic disorder affecting the heme biosynthesis pathway due to a deficiency of the enzyme uroporph...

Congenital Generalized Lipodystrophy (CGL), also known as Berardinelli-Seip Syndrome, is a rare genetic disorder characterized by the near-total absence of subcutane...

Congenital Hyperinsulinism is a group of disorders in which excessive insulin secretion causes hypoglycemia.

Congenital Hypothyroidism is a rare thyroid hormone deficiency disorder.

Congenital Muscular Dystrophy is a rare form of Muscular Dystrophy.

Congenital Myasthenic Syndromes aregenetic muscular disorders caused by flaws at the neuromuscular junctions.

Congenital Myopathy is a genetic muscular disorder.

Congenital Sucrase-Isomaltase Deficiency is a rare disorder in which sucrase is not produced in the small intestine.

Cornelia de Lange syndrome (CdLS) is a developmental disorder characterized by slow growth before and after birth, which affects many parts of the body. The collection of symptoms comprising the...

Coronary Artery Dissection is a rare disorder in which the coronary artery develops a tear.

Corpus Callosum Agenesis Neuronopathy is a rare disorder characterized by a delay in developmental milestones.

Corticobasal Degeneration (CBD) is a progressive rare neurodegenerative disease that involves the degeneration of brain cells and certain parts of the brain. Due to a loss of nerve cells, specif...

Costochondritis is an inflammation of the cartilage that joins the ribs to the chest bone.

Cowden Syndrome is a rare autosomal dominant inherited disorder characterized by multiple tumor-like growths called hamartomas and an increased risk of certain forms of cancer.

Craniopharyngioma is a type of brain tumor derived from pituitary gland embryonic tissue, that occurs most commonly in children but also in men and women in their 50s and 60s.

Creutzfeldt-Jakob Disease is a rare, degenerative brain disorder.

Cri du Chat Syndrome is a rare genetic disorder due to a missing portion of the short arm on chromosome 5.

Crigler-Najjar Syndrome is a rare disorder affecting the metabolism of bilirubin.

Crohn’s Disease (CD) is the chronic inflammation of the bowel or gastrointestinal tract (GIT). Crohn’s is chronic, stressful, and debilitating. Crohn’s is a specific form of In...

Crouzon Syndrome is a genetic disorder which affects the first branchial arch.

Cryptogenic Organizing Pneumonia is a rare disorder characterized by inflammation of the bronchioles and surrounding lung tissue.

Currarino Syndrome is a rare genetic disorder characterized by a malformed sacrum, a mass in the presacral space in front of the sacrum, and malformations of the anus or rectum.

Cushing’s Syndrome (CS) is a rare endocrine disorder caused by an excess of the hormone cortisol. Cortisol is a vital glucocorticoid, a class of steroid hormones that play an important rol...

Cutaneous Mastocytosis is a rare disorder caused by the presence of too many mast cells in the skin.

Patients present with ridges and furrows on top (usually) of the head. Many different observations and related conditions. Only a few include intellectual deficit. For many subjects there is no app...

Cyclic Neutropenia is a rare form of neutropenia.

Cyclic Vomiting Syndrome is a rare condition characterized by recurring attacks of intense nausea and vomiting.

Cylindromatosis is a disease of autosomal dominant inheritance pattern characterized by the formation of benign tumors, predominantly in the scalp.

Cystathioninuria is a rare disorder characterized by excess cystathionine in the urine.

Cystic Fibrosis is a rare hereditary disease characterized by lung infections caused by the body's production of thick mucus.

A Cystic Hygroma is a rare congenital cyst found near or around major organs usually in the head, neck & chest.

Cystinosis is a rare lysosomal storage disorder condition in which the body accumulates cystine within cells.

Cystinuria is a rare genetic disorder characterized by the formation of cystine stones in the kidneys, ureter, and bladder.