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AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)
AP-4-associated hereditary spastic paraplegia (AP-4-HSP) is a group of slowly-progressing neurodegenerative disorders.
Learn more about AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)
Achondroplasia
Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. It is the most common type of dwarfism.
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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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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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Angelman syndrome is a complex genetic disorder that causes developmental and neurological problems.
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Batten Disease
Batten disease is a very rare genetic disorder that affects the brain and nervous system.
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Beckwith-Wiedemann Syndrome
Beckwith-Wiedemann syndrome is a genetic disorder that can cause an overgrowth of particular body parts.
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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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Birth Defects and Congenital Anomalies
A birth defect is a health problem or a physical abnormality.
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Carcinoid Tumors
Carcinoid tumors are a type of neuroendocrine tumor that can develop in the appendix, gastrointestinal tract, or lungs.
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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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Cornelia de Lange Syndrome
Cornelia de Lange syndrome (CdLS) is a rare genetic condition that affects development and growth.
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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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Fragile X syndrome is a genetic condition that can cause a range of learning and developmental problems.
Learn more about Fragile X Syndrome
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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Hypopituitarism
Hypopituitarism occurs when the anterior (front) lobe of the pituitary gland loses its ability to make hormones.
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Juvenile Polyposis Syndrome (JPS)
JPS is a hereditary condition identified by the presence of multiple polyps in the GI tract.
Learn more about Juvenile Polyposis Syndrome (JPS)
Karyotype, Extended Banding, and 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.
Learn more about Karyotype, Extended Banding, and Fluorescent in Situ Hybridization
Leber's 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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Loeys-Dietz syndrome is a rare, genetic condition that affects the formation of a child's connective tissue.
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In microcephaly, the brain develops abnormally, causing the head to be much smaller than expected for the child's age.
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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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Myelodysplastic Syndrome in Children
Myelodysplastic syndrome (MDS) is a rare disease of the blood, only occurring in four out of every 1 million children.
Learn more about Myelodysplastic Syndrome in Children
Neurocutaneous Syndromes
Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders.
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Neuroendocrine tumors, also known as NETs, are growths that develop from specialized, hormone-producing neuroendocrine tissue distributed throughout the body.
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Neurofibromatosis 1 is a genetic condition that causes symptoms including tumors (called neurofibromas) formed from nerve tissue.
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Paraganglioma and Pheochromocytoma
Paragangliomas and pheochromocytomas are tumors that develop out of the neuroendocrine tissue responsible for making epinephrine.
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Pheochromocytomas
A pheochromocytoma is a tumor on the adrenal gland that secretes epinephrine and norepinephrine hormones.
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Schizophrenia is a major psychiatric illness that is rooted in the biology of the brain.
Learn more about Schizophrenia in Children
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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Trisomy 18 and 13
Trisomy 18 and trisomy 13 are fatal genetic birth disorders.
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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 control blood sugar levels.
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Turner syndrome is a genetic disorder that affects females who have a missing or incomplete X chromosome.
Learn more about Turner Syndrome
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