Related Conditions and Treatments
AP-4-Associated Hereditary Spastic Paraplegia (AP-4-HSP)
Condition
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
Condition
Achondroplasia is a genetic bone disorder, affecting one in 20,000 babies. It is the most common type of dwarfism.
Adrenal Tumors
Condition
Adrenal tumors are masses that grow in the adrenal gland, the organ responsible for producing hormones in response to physical and emotional stress.
Anencephaly
Condition
Anencephaly is a condition present at birth that affects the formation of a baby's brain and the skull bones that surround the head.
Angelman Syndrome
Condition
Angelman syndrome is a complex genetic disorder that causes developmental and neurological problems.
Batten Disease
Condition
Batten disease is a very rare genetic disorder that affects the brain and nervous system.
Beckwith-Wiedemann Syndrome
Condition
Beckwith-Wiedemann syndrome is a genetic disorder that can cause an overgrowth of particular body parts.
Biochemical Genetic Testing
Treatment
Biochemical genetic testing involves the study of enzymes in the body that may be abnormal in some way.
Birth Defects and Congenital Anomalies
Condition
A birth defect is a health problem or a physical abnormality.
Carcinoid Tumors
Condition
Carcinoid tumors are a type of neuroendocrine tumor that can develop in the appendix, gastrointestinal tract, or lungs.
Carney Triad
Condition
Carney triad is a rare condition that describes the occurrence of three kinds of endocrine tumors in the same patient.
Cornelia de Lange Syndrome
Condition
Cornelia de Lange syndrome (CdLS) is a rare genetic condition that affects development and growth.
Familial Adenomatous Polyposis
Condition
Familial adenomatous polyposis is a rare genetic condition associated with the growth of dozens to hundreds of polyps in the GI tract.
Fragile X Syndrome
Condition
Fragile X syndrome is a genetic condition that can cause a range of learning and developmental problems.
Hypoglycemia and Low Blood Sugar
Condition
Hypoglycemia is the state of having a blood glucose level that is too low to effectively fuel the body's cells.
Hypopituitarism
Condition
Hypopituitarism occurs when the anterior (front) lobe of the pituitary gland loses its ability to make hormones.
Juvenile Polyposis Syndrome (JPS)
Condition
JPS is a hereditary condition identified by the presence of multiple polyps in the GI tract.
Karyotype, Extended Banding, and Fluorescent in Situ Hybridization
Treatment
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
Condition
Leber's Hereditary Optic Neuropathy causes a painless loss of central vision in people between 12 and 30 years old.
Loeys-Dietz Syndrome
Condition
Loeys-Dietz syndrome is a rare, genetic condition that affects the formation of a child’s connective tissue.
Microcephaly
Condition
In microcephaly, the brain develops abnormally, causing the head to be much smaller than expected for the child's age.
Multiple Endocrine Neoplasia
Condition
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.
Myelodysplastic Syndrome in Children
Condition
Myelodysplastic syndrome (MDS) is a rare disease of the blood, only occurring in four out of every 1 million children.
Neurocutaneous Syndromes
Condition
Neurocutaneous syndrome is a broad term for a group of neurologic (brain, spine, and peripheral nerve) disorders.
Neuroendocrine Tumors (NETs)
Condition
Neuroendocrine tumors, also known as NETs, are growths that develop from specialized, hormone-producing neuroendocrine tissue distributed throughout the body.
Neurofibromatosis
Condition
Neurofibromatosis 1 is a genetic condition that causes symptoms including tumors (called neurofibromas) formed from nerve tissue.
Paraganglioma and Pheochromocytoma
Condition
Paragangliomas and pheochromocytomas are tumors that develop out of the neuroendocrine tissue responsible for making epinephrine.
Pheochromocytomas
Condition
A pheochromocytoma is a tumor on the adrenal gland that secretes epinephrine and norepinephrine hormones.
Schizophrenia in Children
Condition
Schizophrenia is a major psychiatric illness that is rooted in the biology of the brain.
Skeletal Dysplasia
Condition
Skeletal dysplasia is a category of rare genetic disorders that cause abnormal development of a baby’s bones, joints, and cartilage.
Trisomy 18 and 13
Condition
Trisomy 18 and trisomy 13 are fatal genetic birth disorders.
Tumors of the Pancreas
Condition
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.
Turner Syndrome
Condition
Turner syndrome is a genetic disorder that affects females who have a missing or incomplete X chromosome.