Aicardi Syndrome

Alpha1 Antitrypsin Deficiency - A major step forward in understanding the development of emphysema followed the identification, in Sweden, of families with an inherited deficiency of alpha₁-antitrypsin, an enzyme essential for lung integrity. Members of affected families commonly developed panacinar emphysema in the lower lobes, unassociated with chronic bronchitis but leading to ventilatory impairment and disability.

Amniotic Band Syndrome

Anencephaly - Shed by the yolk sac and fetal liver, alpha-fetoprotein can be used to screen for neural tube defects such as anencephaly and spina bifida (developmental abnormality in which spinal cord is not fully enclosed).

Angelman Syndrome - A rare congenital disorder characterized by mental retardation and a tendency to jerky movement, caused by the absence of certain genes normally present on the copy of chromosome 15 inherited from the mother.

Bannayan-Zonana Syndrome 

Batten-Spielmeyer-Vogt Disease ( --> Neuronal Ceroid-Lipofuscinosis) 

Beal's Syndrome 

Beckwith-Wiedemann Syndrome 

Bloch-Sulzberger/Siemens Syndrome (--> Incontinentia Pigmenti)

Bloom Syndrome

Cat Eye Syndrome

CHARGE Syndrome (not on MeSH)

Chromosome 5 deletion ( --> Cri-du-Chat Syndrome) - Rare congenital disorder caused by partial deletion of the short arm of chromosome 5, characterized by mental retardation, mild facial abnormalities, anomalies of dermal ridge patterns (fingerprints, palm prints, and footprints), heart malformations, a failure to thrive, and a high-pitched, wailing cry likened to that of a cat (the name is French for "cat cry").

Chromosome 18 Abnormalities - Also called EDWARDS ' Syndrome, human chromosomal disorder that results from an extra (third) copy of chromosome 18. Infants born with this disorder are smaller than average and usually do not survive longer than a few months. Characteristics of the syndrome include severe mental and growth retardation; congenital heart disease and other internal defects; and a multitude of bodily deformities, such as low-set and malformed ears, cleft lip and palate, a receding chin, convex soles of the feet, a webbed neck, and fingers bent in a unique configuration.

Cornelia de Lange Syndrome

Cystic Fibrosis - Also called MUCOVISCIDOSIS, formerly CYSTIC FIBROSIS OF THE PANCREAS, an inherited metabolic disorder, the chief symptom of which is the production of a thick, sticky mucus that clogs the respiratory tract and the gastrointestinal tract.

Costello Syndrome 

Cri-du-Chat Syndrome - Rare congenital disorder caused by partial deletion of the short arm of chromosome 5, characterized by mental retardation, mild facial abnormalities, anomalies of dermal ridge patterns (fingerprints, palm prints, and footprints), heart malformations, a failure to thrive, and a high-pitched, wailing cry likened to that of a cat (the name is French for "cat cry").

Down Syndrome - Congenital disorder caused by an extra chromosome on the chromosome 21 pair, thus giving the person a total of 47 chromosomes rather than the normal 46. Persons born with Down syndrome are characterized by several of the following: broad, flat face; short neck; up-slanted eyes, sometimes with an inner epicanthal fold; low-set ears; small nose and enlarged tongue and lips; sloping underchin; poor muscle tone; mental retardation; heart or kidney malformations or both; and abnormal dermal ridge patterns on fingers, palms, and soles. The mental retardation seen in persons with Down syndrome is usually moderate, though in some it may be mild or severe. 

Ectodermal Dysplasia  - The enlargement of an organ or tissue by the proliferation of cells of an abnormal type, as a developmental disorder or an early stage in the development of cancer.

Fetal Alcohol Syndrome - Various congenital abnormalities in the newborn infant that are caused by the mother's ingestion of significant amounts of alcohol around the time of conception or during pregnancy.
The principal symptoms of a child born with fetal alcohol syndrome are retarded growth both before and after birth; various abnormalities of the central nervous system; and certain characteristic abnormalities of the face and head. The latter include microcephaly (small head); short palpebral fissures (small eye openings); ptosis (eyelid droop); epicanthic folds (skin folds over the inside eye corner); short, upturned nose; long, smooth philtrum (area between nose and mouth); thin upper lip; and a small jaw. The central nervous system abnormalities result in mental retardation, delayed intellectual development, and various behavioral problems such as poor concentration, impulsiveness, and an inability to consider the consequences of one's actions.

Fetofetal Transfusion  - An act of transfusing donated blood, blood products, or other fluid into the circulatory system of a person or animal.

Fragile X Syndrome - A chromosomal disorder associated with a fragile site on the end of the X chromosome. The major symptom of the syndrome is mental retardation.

Freeman-Sheldon Syndrome 

Holoprosencephaly 

Gorlin's Syndrome ( --> Basal Cell Nevus Syndrome)

Trisomy 13 - Also called PATAU'S SYNDROME, human chromosomal disorder that results from an extra (third) copy of chromosome 13. Infants born with this disorder have profound mental retardation and severe developmental malformations that include a small head, a cleft palate and lip, tiny eyes and eye openings, extra digits on hands and feet (polydactyly), clenched fingers, central nervous system abnormalities, and defects in many internal organs. There is no cure for this disorder, and most infants die in the first few months of life.

Jacobsen Syndrome 

Incontinentia Pigmenti 

Lissencephaly 

Laurence-Moon Syndrome 

Larsen Syndrome (not on MeSH) 

Klinefelter's Syndrome - Relatively common (one per 500 live male births) human sex-chromosome disorder. It is characterized by the following: small testes, lack of sperm formation, late puberty with reduced secondary sexual characteristics (but with normal-sized penis), usually a delicate and long-limbed physique, occasionally breast enlargement (gynecomastia), and about a 25 percent frequency of mental retardation but a much higher frequency of behavioral difficulties.

Jaundice, Neonatal - Excess of bile pigments in the bloodstream and bodily tissues. There is a yellow to orange and, sometimes, even greenish discoloration of the skin, the whites of the eyes, and the mucous membranes.

Ivemark Syndrome 

Microcephaly - Condition of abnormal smallness of the head. Microcephalic individuals are usually severely retarded both mentally and developmentally.

Monosomy 9p- syndrome 

Musculoskeletal Abnormalities (Pediatr.) - Common congenital musculoskeletal defects include abnormalities of the feet and the hips. Classic clubfoot, or talipes equinovarus, is a congenital twisting of the foot in which the heel bends upward and the front part of the foot is turned inward and bent toward the heel.

Neurofibromatoses - Neurofibromatosis - Either of two hereditary disorders characterized by distinctive skin lesions and by benign, progressively enlarging tumours of the nervous system.

Nail-Patella Syndrome 

Neuronal Ceroid-Lipofuscinosis  (--> Batten Disease) 

Noonan Syndrome  - An abnormal condition in which drainage of the lymphatic system is blocked, allowing fluid to build up in the tissues. Oculocerebrorenal (Lowe) Sydrome 

Prader-Willi Syndrome  - This is characterized by a rounded face, low forehead, and mental retardation.

Proteus Syndrome 

Prune Belly Syndrome 

Rett Syndrome - Also called CEREBROATROPHIC HYPERAMMONEMIA, rare progressive neurological disorder that causes mental retardation, compulsive hand movements, difficulties in walking, and other symptoms. 

Robinow Syndrome (Foetal Face Syndrome) 

Rubinstein-Taybi Syndrome

Schizencephaly 

Shprintzen Syndrome ( --> Velocardiofacial Syndrome )

Situs Inversus - An uncommon condition in which the heart and other organs of the body are transposed through the sagittal plane to lie on the opposite (left or right) side from the usual.

Smith-Lemli-Opitz Syndrome

Smith-Magenis Syndrome

Sotos Syndrome ( --> Cerebral Gigantism) 

Sturge-Weber Syndrome - This is characterized by a large red ("port-wine") overgrowth of blood vessels in the skin over the upper face and by a growth of the underlying brain. The latter effect may cause seizures, spastic weakness, and visual-field deficits.

Syphilis, Congenital  - Systemic disease that is caused by the spirochete bacterium Treponema pallidum. Syphilis is usually transmitted through sexual contact, but it occasionally occurs congenitally from infection in the mother. Another form, endemic syphilis, is nonvenereal (not related to sexual contact) in spread and is localized in parts of the world where climatic, economic, and social conditions favour its development.

Triple-X Females 

Turner's Syndrome  - Also called GONADAL DYSGENESIS, relatively uncommon sex-chromosome disorder that causes aberrant sexual development in human females. Affected individuals evidence the following signs and symptoms: low hairline; webbed neck; shield-shaped chest with widely spaced nipples; usually kidney and heart malformations with coarctation (narrowing) of the aorta.

Twins, Conjoined - Formerly called SIAMESE TWIN one of a pair of twins who are physically joined and often share some organs. Fusion is typically along the trunk of the body or at the front, side, or back of the head.

Usher Syndrome 

Velocardiofacial Syndrome 

von Recklinghausen Disease ( --> Neurofibromatosis 1) - Also called Osteitis Fibrosa Cystica, uncommon disorder characterized by loss of mineral materials from the skeleton, the development of brown cystic bone tumours and of kidney stones, and progressive kidney insufficiency. Symptoms include chronic tiredness and sleepiness, weakness, loss of appetite, constipation, nausea, thirst, and sometimes personality changes. Pain accompanies weakening of bones.

Waardenburg's Syndrome 

Werner Syndrome - Sometimes called progeria of the adult, appears in young adulthood or, less commonly, in late adolescence.

Wolf-Hirschhorn Syndrome 

X-Linked Myotubular Myopathy

XXY Males ( --> Klinefelter's Syndrome)

XYY Karyotype