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Rare and Inherited Diseases
Genetic, congenital and other uncommon conditions. 106 evidence-grounded articles.
A B C D E F G H I K L M N O P R S T V W X
Achondroplasia
An autosomal dominant disorder that is the most frequent form of short-limb dwarfism.
Acrodermatitis
Inflammation involving the skin of the extremities, especially the hands and feet.
Adenomatous Polyposis Coli
A polyposis syndrome due to an autosomal dominant mutation of the APC genes (genes, APC) on chromosome 5.
Adrenoleukodystrophy
An X-linked recessive disorder characterized by the accumulation of saturated very long chain fatty acids in the lysosomes of adrenal cortex and the white matter of central nervous system.
Albinism
General term for a number of inherited defects of amino acid metabolism in which there is a deficiency or absence of pigment in the eyes, skin, or hair.
alpha 1-Antitrypsin Deficiency
Deficiency of the protease inhibitor alpha 1-antitrypsin that manifests primarily as pulmonary emphysema and liver cirrhosis.
alpha-Thalassemia
A disorder characterized by reduced synthesis of the alpha chains of hemoglobin.
Anencephaly
A malformation of the nervous system caused by failure of the anterior neuropore to close.
Angelman Syndrome
A syndrome characterized by multiple abnormalities, intellectual disability, and movement disorders.
Aniridia
A congenital abnormality in which there is only a rudimentary iris.
Anorectal Malformations
Congenital defects in the anus and the rectum often involving the urinary and genital tracts.
Aortic Coarctation
A birth defect characterized by the narrowing of the aorta that can be of varying degree and at any point from the transverse arch to the iliac bifurcation.
Arachnoid Cysts
Intracranial or spinal cavities containing a cerebrospinal-like fluid, the wall of which is composed of arachnoidal cells.
Arteriovenous Fistula
An abnormal direct communication between an artery and a vein without passing through the capillaries.
Arteriovenous Malformations
Abnormal formation of blood vessels that shunt arterial blood directly into veins without passing through the capillaries.
Ataxia Telangiectasia
An autosomal recessive inherited disorder characterized by choreoathetosis beginning in childhood, progressive cerebellar ataxia; telangiectasis of conjunctiva and SKIN; dysarthria; B- and T-cell immunodeficiency, and radiosensiti
beta-Thalassemia
A disorder characterized by reduced synthesis of the beta chains of hemoglobin.
Biliary Atresia
Progressive destruction or the absence of all or part of the extrahepatic bile ducts, resulting in the complete obstruction of BILE flow.
Bladder Exstrophy
A birth defect in which the urinary bladder is malformed and exposed, inside out, and protruded through the abdominal wall.
Bronchogenic Cyst
A usually spherical cyst, arising as an embryonic out-pouching of the foregut or trachea.
Brugada Syndrome
An autosomal dominant defect of cardiac conduction that is characterized by an abnormal ST-segment in leads v1-v3 on the electrocardiogram resembling a right bundle-branch block; high risk of ventricular tachycardia; or ventricula
CADASIL
A familial, cerebral arteriopathy mapped to chromosome 19q12, and characterized by the presence of granular deposits in small cerebral arteries producing ischemic stroke; pseudobulbar palsy; and multiple subcortical infarcts (cere
Cardiovascular Abnormalities
Congenital, inherited, or acquired anomalies of the cardiovascular system, including the heart and blood vessels.
Charcot-Marie-Tooth Disease
A hereditary motor and sensory neuropathy transmitted most often as an autosomal dominant trait and characterized by progressive distal wasting and loss of reflexes in the muscles of the legs (and occasionally involving the arms).
Choledochal Cyst
A congenital anatomic malformation of a bile duct, including cystic dilatation of the extrahepatic bile duct or the large intrahepatic bile duct.
Ciliopathies
Genetic disorders caused by defects in genes related to the primary cilium; basal body; or centrosome.
Cleft Lip
Congenital defect in the upper lip where the maxillary prominence fails to merge with the merged medial nasal prominences.
Coloboma
Congenital anomaly in which some of the structures of the eye are absent due to incomplete fusion of the fetal intraocular fissure during gestation.
Congenital Hypothyroidism
A condition in infancy or early childhood due to an in-utero deficiency of thyroid hormones that can be caused by genetic or environmental factors, such as thyroid dysgenesis or hypothyroidism in infants of mothers treated with th
Cryptorchidism
A developmental defect in which a testis or both testes failed to descend from high in the abdomen to the bottom of the scrotum.
Cystic Fibrosis
An autosomal recessive genetic disease of the exocrine glands.
Cystinosis
A metabolic disease characterized by the defective transport of cystine across the lysosomal membrane due to mutation of a membrane protein cystinosin.
Developmental Dysplasia of the Hip
Dislocation of the hip joint from an abnormal femoral head to the acetabulum relationship.
Double Outlet Right Ventricle
Incomplete transposition of the great vessels in which both the aorta and the pulmonary artery arise from the right ventricle.
Down Syndrome
A chromosome disorder associated either with an extra chromosome 21 or an effective trisomy for chromosome 21.
Dwarfism
A genetic or pathological condition that is characterized by short stature and undersize.
Ectodermal Dysplasia
A group of hereditary disorders involving tissues and structures derived from the embryonic ectoderm.
Ehlers-Danlos Syndrome
A heterogeneous group of autosomally inherited collagen diseases caused by defects in the synthesis or structure of fibrillar collagen.
Encephalocele
Brain tissue herniation through a congenital or acquired defect in the skull.
Epidermolysis Bullosa
Group of genetically determined disorders characterized by the blistering of skin and mucosae.
Esophageal Atresia
Congenital abnormality characterized by the lack of full development of the esophagus that commonly occurs with tracheoesophageal fistula.
Fabry Disease
An X-linked inherited metabolic disease caused by a deficiency of lysosomal alpha-galactosidase A.
Familial Mediterranean Fever
A group of hereditary autoinflammation diseases, characterized by recurrent fever, abdominal pain, headache, rash, pleurisy; and arthritis.
Fanconi Anemia
Congenital disorder affecting all bone marrow elements, resulting in anemia; leukopenia; and thrombopenia, and associated with cardiac, renal, and limb malformations as well as dermal pigmentary changes.
Fanconi Syndrome
A hereditary or acquired form of generalized dysfunction of the proximal kidney tubule without primary involvement of the kidney glomerulus.
Fragile X Syndrome
A condition characterized genotypically by mutation of the distal end of the long arm of the X chromosome (at gene loci fraxa or fraxe) and phenotypically by cognitive impairment, hyperactivity, seizures, language delay, and enlar
Gastroschisis
A congenital defect with major fissure in the abdominal wall lateral to, but not at, the umbilicus.
Gaucher Disease
An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (glucosylceramidase) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the mononuclear phagocyte system.
Glycogen Storage Disease
A group of inherited metabolic disorders involving the enzymes responsible for the synthesis and degradation of glycogen.
Gonadal Dysgenesis
A number of syndromes with defective gonadal developments such as streak gonads and dysgenetic testes or ovaries.
Graves Ophthalmopathy
An autoimmune disorder of the EYE, occurring in patients with Graves disease.
Hemochromatosis
A disorder of iron metabolism characterized by a triad of hemosiderosis; liver cirrhosis; and diabetes mellitus.
Hemophilia A
The classic hemophilia resulting from a deficiency of factor VIII.
Hemophilia B
A deficiency of blood coagulation factor IX inherited as an X-linked disorder.
Hirschsprung Disease
Congenital megacolon resulting from the absence of ganglion cells (aganglionosis) in a distal segment of the large intestine.
Holoprosencephaly
Anterior midline brain, cranial, and facial malformations resulting from the failure of the embryonic prosencephalon to undergo segmentation and cleavage.
Homocystinuria
Autosomal recessive inborn error of methionine metabolism usually caused by a deficiency of cystathionine beta-synthase and associated with elevations of homocysteine in plasma and urine.
Huntington Disease
A familial disorder inherited as an autosomal dominant trait and characterized by the onset of progressive chorea and dementia in the fourth or fifth decade of life.
Hydrops Fetalis
Abnormal accumulation of serous fluid in two or more fetal compartments, such as SKIN; pleura; pericardium; placenta; peritoneum; amniotic fluid.
Hyperandrogenism
A condition caused by the excessive secretion of androgens from the adrenal cortex; the ovaries; or the testes.
Hyperhomocysteinemia
Condition in which the plasma levels of homocysteine and related metabolites are elevated (>13.9 μmol/l).
Hypertelorism
Abnormal increase in the interorbital distance due to overdevelopment of the lesser wings of the sphenoid.
Hypoplastic Left Heart Syndrome
A condition caused by underdevelopment of the whole left half of the heart.
Hypospadias
A birth defect due to malformation of the urethra in which the urethral opening is below its normal location.
Ichthyosis
Any of several generalized skin disorders characterized by dryness, roughness, and scaliness, due to hypertrophy of the stratum corneum epidermis.
Klinefelter Syndrome
A form of male hypogonadism, characterized by the presence of an extra X chromosome, small testes, seminiferous tubule dysgenesis, elevated levels of gonadotropins, low serum testosterone, underdeveloped secondary sex characterist
Lactose Intolerance
The condition resulting from the absence or deficiency of lactase in the mucosa cells of the gastrointestinal tract, and the inability to break down lactose in milk for absorption.
Lissencephaly
A smooth brain malformation of the cerebral cortex resulting from the abnormal location of developing neurons during corticogenesis.
Long QT Syndrome
A condition that is characterized by episodes of fainting (syncope) and varying degree of ventricular arrhythmia as indicated by the prolonged QT interval.
Lysosomal Storage Diseases
Inborn errors of metabolism characterized by defects in specific lysosomal hydrolases and resulting in intracellular accumulation of unmetabolized substrates.
Marfan Syndrome
An autosomal dominant disorder of connective tissue with abnormal features in the heart, the eye, and the skeleton.
Meningocele
A congenital or acquired protrusion of the meninges, unaccompanied by neural tissue, through a bony defect in the skull or vertebral column.
Microcephaly
A congenital abnormality in which the cerebrum is underdeveloped, the fontanels close prematurely, and, as a result, the head is small.
Mucopolysaccharidoses
Group of lysosomal storage diseases each caused by an inherited deficiency of an enzyme involved in the degradation of glycosaminoglycans (mucopolysaccharides).
Multiple Endocrine Neoplasia
A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more endocrine glands that secrete peptide hormones or amines.
Multiple Endocrine Neoplasia Type 1
A form of multiple endocrine neoplasia that is characterized by the combined occurrence of tumors in the parathyroid glands, the pituitary gland, and the pancreatic islets.
Muscular Dystrophies
A heterogeneous group of inherited myopathies, characterized by wasting and weakness of the skeletal muscle.
Myotonic Dystrophy
Neuromuscular disorder characterized by progressive muscular atrophy; myotonia, and various multisystem atrophies.
Neural Tube Defects
Congenital malformations of the central nervous system and adjacent structures related to defective neural tube closure during the first trimester of pregnancy generally occurring between days 18-29 of gestation.
Noonan Syndrome
A genetically heterogeneous, multifaceted disorder characterized by short stature, webbed neck, ptosis, skeletal malformations, hypertelorism, hormonal imbalance, cryptorchidism, multiple cardiac abnormalities (most commonly inclu
Osteogenesis Imperfecta
Collagen diseases characterized by brittle, osteoporotic, and easily fractured bones.
Peutz-Jeghers Syndrome
A hereditary disease caused by autosomal dominant mutations involving chromosome 19.
Polydactyly
A congenital anomaly of the hand or foot, marked by the presence of supernumerary digits.
Prader-Willi Syndrome
An autosomal dominant disorder caused by deletion of the proximal long arm of the paternal chromosome 15 (15q11-q13) or by inheritance of both of the pair of chromosomes 15 from the mother (uniparental disomy) which are imprinted
Progeria
An abnormal congenital condition, associated with defects in the lamin type A gene, which is characterized by premature aging in children, where all the changes of cell senescence occur.
Pseudohypoparathyroidism
A hereditary syndrome clinically similar to hypoparathyroidism.
Pseudoxanthoma Elasticum
An inherited disorder of connective tissue with extensive degeneration and calcification of elastic tissue primarily in the skin, eye, and vasculature.
Pulmonary Atresia
A congenital heart defect characterized by the narrowing or complete absence of the opening between the right ventricle and the pulmonary artery.
Retinitis Pigmentosa
Hereditary, progressive degeneration of the retina due to death of rod photoreceptors initially and subsequent death of cone photoreceptors.
Rett Syndrome
An inherited neurological developmental disorder that is associated with x-linked inheritance and may be lethal in utero to hemizygous males.
Severe Combined Immunodeficiency
Group of rare congenital disorders characterized by impairment of both humoral and cell-mediated immunity, leukopenia, and low or absent antibody levels.
Situs Inversus
A congenital abnormality in which organs in the thorax and the abdomen are opposite to their normal positions (situs solitus) due to lateral transposition.
Syndactyly
A congenital anomaly of the hand or foot, marked by the webbing between adjacent fingers or toes.
Synostosis
A union between adjacent bones or parts of a single bone formed by osseous material, such as ossified connecting cartilage or fibrous tissue.
Tetralogy of Fallot
A combination of congenital heart defects consisting of four key features including ventricular septal defects; pulmonary stenosis; right ventricular hypertrophy; and a dextro-positioned aorta.
Thalassemia
A group of hereditary hemolytic anemias in which there is decreased synthesis of one or more hemoglobin polypeptide chains.
Tourette Syndrome
A neuropsychological disorder related to alterations in dopamine metabolism and neurotransmission involving frontal-subcortical neuronal circuits.
Tuberous Sclerosis
Autosomal dominant neurocutaneous syndrome classically characterized by mental retardation; epilepsy; and skin lesions (e.g., adenoma sebaceum and hypomelanotic macules).
Turner Syndrome
A syndrome of defective gonadal development in phenotypic females associated with the karyotype 45,X (or 45,XO).
Vascular Malformations
A spectrum of congenital, inherited, or acquired abnormalities in blood vessels that can adversely affect the normal blood flow in arteries or veins.
von Hippel-Lindau Disease
An autosomal dominant disorder caused by mutations in a tumor suppressor gene.
Williams Syndrome
A disorder caused by hemizygous microdeletion of about 28 genes on chromosome 7q11.23, including the elastin gene.
Wilms Tumor
A malignant kidney tumor, caused by the uncontrolled multiplication of renal stem (blastemal), stromal (stromal cells), and epithelial (epithelial cells) elements.
Wiskott-Aldrich Syndrome
A rare, X-linked immunodeficiency syndrome characterized by eczema; lymphopenia; and, recurrent pyogenic infection.
Wolff-Parkinson-White Syndrome
A form of ventricular pre-excitation characterized by a short PR interval and a long QRS interval with a delta wave.
Xeroderma Pigmentosum
A rare, pigmentary, and atrophic autosomal recessive disease.