Related Conditions & Treatments | Boston Children's Hospital

Condition

Achondroplasia

Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. It is the most common type of dwarfism.

Condition

Adrenal Tumors

Adrenal tumors are masses that grow in the adrenal gland, the organ responsible for producing hormones in response to physical and emotional stress.

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Condition

Anencephaly

Anencephaly is a condition present at birth that affects the formation of a baby's brain and the skull bones that surround the head.

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Condition

Angelman Syndrome

Angelman syndrome is a complex genetic disorder that causes developmental and neurological problems.

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Condition

AP 4 Associated Hereditary Spastic Paraplegia

AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a group of slowly progressing neurodegenerative disorders.

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Condition

Batten Disease

Batten disease is a very rare genetic disorder that affects the brain and nervous system.

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Condition

Beckwith-Wiedemann Syndrome

Beckwith-Wiedemann syndrome is a genetic disorder that can cause an overgrowth of particular body parts.

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Treatment

Biochemical Genetic Testing

Biochemical genetic testing involves the study of enzymes in the body that may be abnormal in some way.

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Condition

Birth Defects and Congenital Anomalies

A birth defect is a health problem or a physical abnormality.

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Condition

Carcinoid Tumors

Carcinoid tumors are a type of neuroendocrine tumor that can develop in the appendix, gastrointestinal tract, or lungs.

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Condition

Carney Triad

Carney triad is a rare condition that describes the occurrence of three kinds of endocrine tumors in the same patient.

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Condition

Cornelia de Lange Syndrome

Cornelia de Lange syndrome (CdLS) is a rare genetic condition that affects development and growth.

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Condition

Familial Adenomatous Polyposis

Familial adenomatous polyposis is a rare genetic condition associated with the growth of dozens to hundreds of polyps in the GI tract.

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Condition

Fragile X Syndrome

Fragile X syndrome is a genetic condition that can cause a range of learning and developmental problems.

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Condition

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.

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Condition

Hypopituitarism

Hypopituitarism occurs when the anterior (front) lobe of the pituitary gland loses its ability to make hormones.

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Condition

JPS

JPS is a hereditary condition identified by the presence of multiple polyps in the GI tract.

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Treatment

Karyotype, Extended Banding, Fluorescent in Situ Hybridization

Karyotype, extended banding chromosome studies, fluorescent in situ hybridization, and chromosomal microarray analysis are different chromosome studies that can help determine if your child has a genetic birth defect.

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Condition

Lebers Optic Atrophy

Leber's Hereditary Optic Neuropathy causes a painless loss of central vision in people between 12 and 30 years old.

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Condition

Loeys-Dietz Syndrome

Loeys-Dietz syndrome is a rare, genetic condition that affects the formation of a child’s connective tissue.

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Condition

Microcephaly

In microcephaly, the brain develops abnormally, causing the head to be much smaller than expected for the child's age.

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Condition

Multiple Endocrine Neoplasia

Multiple endocrine neoplasia (MEN) is an inherited genetic multiple endocrine neoplasia that causes tumors to grow in several of the body’s hormone-producing, endocrine organs.

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Condition

Myelodysplastic Syndrome

Myelodysplastic syndrome (MDS) is a rare disease of the blood, only occurring in four out of every 1 million children.

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Condition

Neurocutaneous Syndromes

Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders.

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Condition

Neuroendocrine Tumors

Neuroendocrine tumors, also known as NETs, are growths that develop from specialized, hormone-producing neuroendocrine tissue distributed throughout the body.

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Condition

Neurofibromatosis

Neurofibromatosis 1 is a genetic condition that causes symptoms including tumors (called neurofibromas) formed from nerve tissue.

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Condition

Paraganglioma and Pheochromocytoma

Paragangliomas and pheochromocytomas are tumors that develop out of the neuroendocrine tissue responsible for making epinephrine.

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Condition

Phenylketonuria (PKU)

Phenylketonuria (PKU) is a genetically determined metabolic disorder that is highly treatable.

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Condition

Pheochromocytomas

A pheochromocytoma is a tumor on the adrenal gland that secretes epinephrine and norepinephrine hormones.

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Condition

Schizophrenia

Schizophrenia is a major psychiatric illness that is rooted in the biology of the brain.

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Condition

Skeletal Dysplasia

Skeletal dysplasia is a category of rare genetic disorders that cause abnormal development of a baby’s bones, joints, and cartilage.

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Condition

Trisomy 18 and 13

Trisomy 18 and trisomy 13 are fatal genetic birth disorders.

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Condition

Tumors of the Pancreas

Tumors of the pancreas can develop from the pancreas’ exocrine cells, which make enzymes to aid in digestion, or endocrine cells, which produce hormones such as insulin and glucagon that...

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Condition

Turner Syndrome

Turner syndrome is a genetic disorder that affects females who have a missing or incomplete X chromosome.

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