$47 XYY syndrome$: A genetic condition where males have an extra Y chromosome in each of their cells. Normally male cells have one X and one Y chromosome. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
$47,XXX syndrome$: A genetic condition where females have an extra X chromosome in each of their cells. Normally female cells have two X chromosomes. This is not usually an inherited condition but a defect that occurs during cell division. Often the condition is asymptomatic.
Aromatase deficiency: A congenital deficiency of the enzyme called aromatase which is needed to convert androgens to estrogens.
Camptodactyly, tall stature, and hearing loss syndrome: A rare syndrome characterized mainly by camptodactyly, tall stature and hearing loss. The hearing loss starts at birth or during infancy and progresses during childhood resulting in mild to severe hearing impairment.
Chromosome 15q duplication syndrome: A rare chromosomal disorder involving an extra copy of genetic material from the long arm of chromosome 15. The type and severity of symptoms are determined by the amount and location of the duplicated genetic material.
Chromosome 4, monosomy 4p14 p16: A rare chromosomal disorder characterized by various abnormalities including muscle problems, tall stature, mental retardation and hand and facial anomalies.
Clark-Baraitser syndrome: A very rare syndrome characterized mainly by tallness, large head, mental retardation and various facial anomalies.
Fryns-Fabry-Remans syndrome: A rare syndrome characterized by the progressive fusion of the front of the vertebrae as well as the excessive growth of the whole body.
Gigantism: A rare endocrine disorder where excess growth hormone is produced prior to puberty.
Insulin-resistance syndrome, type A: A syndrome characterized by insulin resistance resulting in distinctive skin lesions called acanthosis nigricans. It is the least severe form of insulin resistance.
Jacobs syndrome: A very rare syndrome characterized mainly by heart inflammation (pericardium), joint disease and permanent finger flexion. The number of joints affected is variable.
Kallmann Syndrome: A rare inherited condition characterized by hypogonadism, eunuchoidism and impaired or absent sense of smell. The condition occurs as a result of failure of a part of the hypothalamus which results in hormonal imbalance.
Klinefelter syndrome: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division. Klinefelter syndrome variants is a more severe form of the condition as it involves more than one extra X or X and Y chromosome in each cell.
Klinefelter syndrome, variants: A genetic condition where males have at least one extra X chromosome or extra copies of both the X and Y chromosomes in each cell. Normally male cells contain one X and one Y chromosome in each cell. The condition is not inherited but is a result of problems during cell division.
MOMO syndrome: A very rare syndrome characterized mainly by a large size and weight at birth, a large head and eye abnormalities.
Mannosidosis, alpha B lysosomal: A rare inherited metabolic disorder involving a deficiency of an enzyme (alpha-mannosidosase) which results in the accumulation of certain chemicals in the body which leads to progressive damage.
Marfan Syndrome type 2: A very rare syndrome characterized by some of the skeletal and heart blood vessel abnormalities seen in Marfan syndrome but there are no eye abnormalities. The genetic cause of the two types is different.
Marfan syndrome: A genetic connective tissue disorder involving a defect of chromosome 15q21.1 which affects the production of the fibrillin needed to make connective tissue.
Marfan-Like syndrome: Any congenital condition with a group of symptoms that resembles Marfan syndrome but doesn't quite fulfill all the criteria. Marfan syndrome is a connective tissue disorder that affects the skeleton, lungs, eyes, heart and blood vessels.
Marfanoid hypermobility: An inherited connective tissue disorder with certain characteristics of Marfan and Ehlers-Danlos syndromes. Ehlers-Danlos syndrome is characterized by hyperextensible skin and loose joints and Marfan syndrome is characterized by symptoms such as tall, slender build, ear anomalies and hand contractures.
Mental retardation, X linked - precocious puberty - obesity: A rare disorder characterized by mental retardation, premature puberty and obesity. The disorder is inherited in a X-linked manner which means that only males display the full range of symptoms whereas female carriers may have mild or no symptoms.
Mental retardation, X-linked, 93: A rare form of mental retardation inherited in a X-linked manner. It occurs as a result of a defect in the BRWD3 gene. Female carriers may also suffer from some mental deficiency.
Overgrowth syndrome, type Fryer: A rare disorder involving excessive growth resulting in a large birth size and excessive growth following birth. Adults with this disorder also tend to be excessively tall.
Quattrin mcpherson syndrome: A rare syndrome characterized mainly by a large mouth, developmental delay and an unusual facial appearance.