Conditions and Treatments from the Division of Genetics

Achondroplasia

What is achondroplasia? Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. It is the most common type of dwarfism in which the child's arms and legs are short in proportion to...

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Anencephaly

Overview Anencephaly is a condition present at birth that affects the formation of your baby's brain and the skull bones that surround her head. Anencephaly results in only minimal development of the...

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Angelman Syndrome

Overview Angelman syndrome is a complex genetic disorder that causes developmental and neurological problems, such as severe speech impairment and trouble walking and balancing (ataxia). affects about...

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Birth Defects and Congenital Anomalies

What are birth defects and congenital anomalies? About 3 to 4 percent of babies are born with some type of birth defect. A birth defect is a health problem or a physical abnormality. It can be very...

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Fragile X Syndrome

What is fragile X syndrome? Fragile X syndrome is a genetic condition that can cause a range of learning and developmental problems. These can include: intellectual disability hyperactivity or...

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Hypoglycemia and low blood sugar

What is hypoglycemia and low blood sugar? Hypoglycemia is the state of having a blood glucose level that is too low to effectively fuel the body's cells. Glucose, which comes from carbohydrates found...

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Hypopituitarism

Over the past two decades or so, we've learned a lot about how the pituitary gland develops. Today, that ever-evolving knowledge helps us better serve our patients and their families. Laurie Cohen, MD...

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Leber's Optic Atrophy

Overview Leber's Hereditary Optic Neuropathy, or LHON, causes a painless loss of central vision in people with the condition when they’re between 12 and 30 years old. It’s associated with a mutation...

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Loeys-Dietz Syndrome

What is Loeys-Dietz syndrome? Loeys-Dietz syndrome is a rare, genetic condition that affects the formation of a child’s connective tissue. This can lead to problems with many different parts of the...

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Microcephaly

What is microcephaly? When a child has microcephaly, the brain develops abnormally, causing the head to be much smaller than expected for the child's age. ("Micro" means "small," while "cephaly" comes...

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Myelodysplastic Syndrome in Children

Myelodysplastic syndrome (MDS) is a rare disease of the blood, only occurring in four out of every 1 million children. This rare disease keeps the body from properly producing blood cells and...

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Neurocutaneous Syndromes

It can be hard to find accurate information about some neurocutaneous syndromes simply because they’re relatively rare.They affect from 1 in 3,000 (neurofibromatosis) children to 1 in close to 50,000 ...

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Neurofibromatosis

Whether there’s a family history of neurofibromatosis 1 (NF1) or the diagnosis comes straight out of the blue, no parents are ever ready to learn that their child has a chronic and unpredictable...

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Pheochromocytomas

A pheochromocytoma is a tumor on the adrenal gland that secretes epinephrine and norepinephrine hormones. Epinephrine and norepinphrine are responsible for regulating heart rate and blood pressure,...

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Schizophrenia

Learning that your child may have schizophrenia is a life-changing moment for any parent. In the midst of what feels like an onslaught of confusion, fear and exhaustion, your first instinct may be to...

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Trisomy 18 and 13

Overview The term trisomy describes the presence of three chromosomes instead of the usual pair of chromosomes. For example, trisomy 21, or Down syndrome, occurs when a baby has three #21 chromosomes....

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Turner Syndrome

"I approach treatment as a long-term conversation between me, the patient and her parents about the best courses of action. Establishing some level of normalcy for families in situations that's aren't...

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