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Marfan syndrome ( MFS) is a multi-systemic genetic disorder that affects the connective tissue. [6] [7] [1] Those with the condition tend to be tall and thin, with long arms, legs, fingers, and toes. [1] . They also typically have exceptionally flexible joints and abnormally curved spines. [1] .
- Tall thin build; long arms, legs and fingers; flexible fingers and toes
- Genetic (autosomal dominant)
Pendred syndrome is a genetic disorder leading to congenital bilateral (both sides) sensorineural hearing loss and goitre with euthyroid or mild hypothyroidism (decreased thyroid gland function). There is no specific treatment, other than supportive measures for the hearing loss and thyroid hormone supplementation in case of hypothyroidism.
- Vaughan Pendred
- Endocrinology
- Goiter-deafness syndrome
Klinefelter syndrome ( KS ), also known as 47,XXY, is a chromosome anomaly where a male has an extra X chromosome. As the presence of a Y chromosome denotes male sex, people with Klinefelter syndrome are genetically male. [4] . These complications commonly include infertility and small, poorly functioning testicles (if present).
- Two or more X chromosomes in males
McLeod syndrome ( / məˈklaʊd / mə-KLOWD) is an X-linked recessive genetic disorder that may affect the blood, brain, peripheral nerves, muscle, and heart. It is caused by a variety of recessively inherited mutations in the XK gene on the X chromosome.
Weill–Marchesani syndrome is a rare genetic disorder characterized by short stature; an unusually short, broad head ( brachycephaly) and other facial abnormalities; hand defects, including unusually short fingers ( brachydactyly ); and distinctive eye ( ocular) abnormalities.
Huntington's disease (HD), also known as Huntington's chorea, is an incurable neurodegenerative disease[7] that is mostly inherited.[8] The earliest symptoms are often subtle problems with mood or mental/psychiatric abilities.[9][1] A general lack of coordination and an unsteady gait often follow.[2] It is also a basal ganglia disease causing ...
Rett syndrome (RTT) is a genetic disorder that typically becomes apparent after 6–18 months of age and almost exclusively in females.[4] Symptoms include impairments in language and coordination, and repetitive movements.[4] Those affected often have slower growth, difficulty walking, and a smaller head size.[4][5] Complications of Rett ...
