- Angelman syndrome
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A combination of birth defects caused by inheriting both copies of the #15 chromosome from the father (instead of one copy of the #15 chromosome from each parent).
- cri du chat syndrome
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a rare combination of birth defects caused by a deletion of chromosome 5p
- Gaucher disease
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caused by the deficiency of an enzyme called beta-glucosidase. This enzyme is involved in breaking down a specific fatty substance in the body. Lack of this enzyme causes this fatty substance to accumulate in the bone marrow, spleen, liver, and other parts of the body, and can result in anemia, low platelet count and easy bruising and bleeding, bone pain, and bone fractures.
- Klinefelter syndrome
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a chromosomal abnormality in boys characterized by taller than average stature, small firm testes, and often some breast development
See also Endocrinology
- maple syrup urine disease
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an inherited disorder caused by an inability of the body to properly process certain parts of protein called amino acids.
- Marfan syndrome
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a genetic disorder that affects the connective tissue of the body
See also The Heart Center at Children's Memorial Hospital
- mucopolysaccharidoses
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a group of genetic conditions in which the absence or deficiency of an enzyme causes a variety of problems and developmental delays, sometimes including retardation
See also MPS treatment options; Mucopolysaccharidosis I (MPS I); Mucopolysaccharidosis II (MPS II); Mucopolysaccharidosis III (MPS III); Mucopolysaccharidosis IV (MPS IV); Mucopolysaccharidosis VI (MPS VI); The Mucopolysaccharidoses and
Mucolipidoses Treatment Program; The program's services, staff and contact info
- neurofibromatosis-1
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condition, usually inherited, characterized by the development of multiple benign tumors arising from the cells surrounding nerves. They are most commonly noticed in the skin.
See also Neurology; Rosie the rock star
- osteogenesis imperfecta (also called OI or brittle-bone disease)
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an inherited disorder characterized by bones that break easily due to a mutation in collagen. Fetal osteogenesis can be suggested by ultrasound or magnetic resonance imaging (MRI).
See also Institute for Fetal Health; Orthopaedic surgery/Sports and rehabilitative medicine; Searching the world over: David's story
- phenylketonuria (PKU)
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one of the most common inborn errors of metabolism. If untreated, can result in severe mental retardation and other problems
See also Phenylketonuria (PKU)
- Prader-Willi syndrome
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A combination of birth defects (lack of muscle tone, uncontrollable appetite, and mental retardation) caused by inheriting both copies of the #15 chromosome from the mother (rather than inheriting one #15 chromosome from each parent) or by inheriting a chromosome #15 from the father that has a deletion.
- skeletal dysplasias
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result from mutations that affect the growth and development of cartilage and bone. The bones may not only be short, but they may be abnormally shaped, as well. Fetal skeletal dysplasias are diagnosed by ultrasound and magnetic resonance imaging (MRI) before birth and x-rays after birth.
See also Fetal skeletal dysplasia; Institute for Fetal Health; MPS treatment options; Orthopaedic surgery/Sports and rehabilitative medicine
- Tay Sachs disease
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an inherited autosomal recessive condition that causes a progressive degeneration of the central nervous system which is fatal (usually by age 5)
- trisomy
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a term which describes having three copies of one chromosome, rather than two copies.
- Turner syndrome
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A combination of health problems in females caused by the absence of one sex chromosome, leaving a single X chromosome, or 45 total.
See also Endocrinology