Conditions and Treatments from the Division of Genetics

Achondroplasia

Achondroplasia is a genetic bone disorder and the most common type of dwarfism. • Affects one in 20,000 babies • Arms and legs are short in proportion to body length and head is often large • The

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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

A birth defect is a health problem or a physical abnormality that a baby has at birth. It can be very mild or severe. Some birth defects are life-threatening, in which case a baby may only live for a

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Fragile X Syndrome

If your child has been diagnosed with fragile X syndrome, you may be feeling overwhelmed. Remember that seeking out information is not only necessary but empowering—it allows you to partner with your

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Hypoglycemia and low blood sugar

Glucose is a form of sugar that comes from carbohydrates found in foods, and is a main source of fuel for all of the cells of the body and, especially, the brain. While the body is quite good at

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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

"Your child's care team may include physicians from several disciplines, all of whom have experience treating children with the various symptoms of Loeys-Dietz syndrome." – Joan M. Stoler, MD, Boston

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Microcephaly

Microcephaly: Alainah's story 16-month-old Alainah of Cape Cod has enrolled in a genetics study to find the cause of her small head size. In the meantime, early interventions are helping her achieve

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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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