kleine penis

forfaitair in de borst bij mannen, impotentie, teelballen niet gevoeld in het scrotum

Androgen insensitivity syndrome (AIS, or "Androgen resistance syndrome") is a set of disorders of sexual differentiation that results from mutations of the gene encoding the androgen receptor. It has also been called androgen resistance in the medical literature. The nature of the resulting problem varies according to the structure and sensitivity of the abnormal receptor. Most of the forms of AIS involve variable degrees of undervirilization and/or infertility in XY persons of either sex. A woman with complete androgen insensitivity syndrome (CAIS) has a nearly normal female body despite a 46XY karyotype and testes, a condition termed testicular feminization in the past. ... 

gezicht misvormingen, hartgeruis, lage spiertonus, vertraagde ontwikkeling

Down syndrome or trisomy 21 (also Down's syndrome) is a genetic disorder caused by the presence of all or part of an extra 21st chromosome. It is named after John Langdon Down, the British doctor who first described it in 1866. The condition is characterized by a combination of major and minor differences in body structure. Often Down syndrome is associated with some impairment of cognitive ability and physical growth as well as facial appearance. Down syndrome is usually identified at birth. ... 

gewichtstoename, impotentie, onvruchtbaarheid bij vrouwen, verminderd seksueel verlangen bij vrouwen

afwezig schaamhaar en axillaire haar, gezwollen gezicht, korte gestalte, toegenomen gezamenlijke mobiliteit

Growth hormone deficiency is the medical condition of inadequate production of growth hormone (GH) and its effects on children and adults. Growth hormone, also called somatotropin, is a polypeptide hormone which stimulates growth and cell reproduction. See separate articles on GH physiology and GH treatment. ... 

acne, impotentie, menstruatiecyclus onregelmatig, onvruchtbaarheid bij vrouwen

gewichtstoename, verhoogde eetlust, vertraagde ontwikkeling, zwaarlijvig

Prader-Willi Syndrome is a genetic disorder in which seven genes (or some subset thereof) on chromosome 15 are missing or unexpressed (chromosome 15q partial deletion) on the paternal chromosome. It was first described in 1956 by Andrea Prader, Heinrich Willi, Alexis Labhart, Andrew Ziegler, and Guido Fanconi of Switzerland. The incidence of PWS is between 1 in 12,000 and 1 in 15,000 live births. The distinction of chromosome by parental origin is due to imprinting and PWS has the sister syndrome Angelman syndrome that affects maternally imprinted genes in the region. ... 

gegeneraliseerde zwelling van het lichaam, gezwollen gezicht, gezwollen voeten en benen, urineren minder dan normaal

Fraser syndrome is an autosomal recessive genetic disease, characterized by developmental defects including underdevelopment of the eyes (cryptophthalmos) and the genitals (micropenis, cryptorchidism or clitoromegaly). Congenital malformations of the nose, ears,larynx, and renal system as well as mental retardation are manifest occasionally. The Fraser syndrome is also known as: Meyer-Schwickerath's syndrome, Fraser-François syndrome, or Ullrich-Feichtiger syndrome. ... 

acne, impotentie, menstruatiecyclus onregelmatig, onvruchtbaarheid bij vrouwen

5-alpha-reductase deficiency (5-ARD) is a condition caused by a mutation of the 5-alpha reductase type 2 gene. This gene encodes an enzyme that converts testosterone to dihydrotestosterone (DHT). DHT is necessary for the development of male genitalia in utero, and the resulting DHT deficency results in ambiguous external genitalia at birth. The condition affects only chromosomal males (i.e., those with XY chromosomes). Individuals with 5-ARD lack a uterus and Fallopian tubes (due to the normal action of Müllerian inhibiting factor), and possess testicles and Wolffian structures. Their external genitalia, however, can vary from normal male external genitalia, to ambiguous genitalia, to normal female genitalia (although with a tendency towards an enlarged clitoris). In the later cases the Wolffian ducts terminate in the perineum or in a pseudovagina. 5-ARD constitutes a variety of intersexual conditions. ... 

abnormale houdingen van mond voeten, beperking van de beweging, misvorming van de handen en / of vingers, misvorming van mond voeten

Arthrogryposis, also known as Arthrogryposis Multiplex Congenita, is a rare congenital disorder that causes multiple joint contractures and is characterized by muscle weakness and fibrosis. It is a non-progressive disease. The disease derives its name from Greek literally meaning 'curved or hooked joints'. ... 

afwezig schaamhaar en axillaire haar, extra vingers en / of tenen, misvorming van de neus, zwaarlijvig

The Bardet-Biedl syndrome is a genetic disorder characterized mainly by obesity, pigmentary retinopathy, polydactyly, mental retardation, hypogonadism, and renal failure in some cases. ...