Genetic Disorders

Ataxia-telangiectasia

Ataxia-telangiectasia is a rare inherited disorder that affects the nervous system, immune system, and other body systems. Children with this condition have progressive difficulty in coordinating movement and often have difficulty walking, problems with balance and hand coordination, involuntary jerking movement, muscle twitches, and disturbances in nerve function. They also have an increased risk of developing cancer, particularly leukemia and lymphoma. People with ataxia-telangiectasia are very sensitive to radiation exposure, including medical X-rays. Learn more about ataxia-telangiectasia.

Beckwith-Wiedemann syndrome and isolated hemihypertrophy

Beckwith-Wiedemann syndrome is a genetic disorder that can cause overgrowth of body parts (hypertrophy.) It may be limited to one area of the body, or it may involve several parts of the body. When it is only on one side it is called hemihypertrophy. Children with Beckwith-Wiedemann syndrome are at an increased risk of developing cancers, particularly a form of kidney cancer called Wilms tumor and a form of liver cancer called hepatoblastoma. Tumors develop in about 10 percent of people with this condition and almost always appear in childhood. Learn more about Beckwith-Wiedemann syndrome.

Carney complex

Carney complex is a disorder marked by an increased risk of several types of tumors, including noncancerous (benign) tumors in the heart known as cardiac myxomas. Myxomas may also appear on the skin and internal organs. People with Carney complex may also develop cancers of endocrine (hormone-producing) system, such as adrenal glands, thyroid, testes, ovaries, and pituitary gland. Affected individuals also usually have changes in skin coloring (pigmentation). Signs and symptoms of this condition commonly begin in the teens or early adulthood. Read more about Carney complex.

Constitutional mismatch repair deficiency syndrome

Constitutional mismatch repair deficiency syndrome is a rare condition that makes a child more likely to develop several different forms of cancer, including brain tumors, leukemia, lymphomas, abnormal growths in the intestinal tract, gastrointestinal, and female reproductive organs (such as uterus and ovaries). Children may also develop certain skin conditions, such as café-au-lait spots (flat brown colored areas on the skin) or patches of skin that are lighter than the overall skin tone. A child with constitutional mismatch repair deficiency syndrome can develop more than one type of cancer at a time or more than one cancer during his or her lifetime. Read more about constitutional mismatch repair deficiency syndrome.

DICER1 syndrome

DICER1 syndrome is an inherited disorder that increases the risk of a variety of cancerous and noncancerous (benign) tumors. Certain types of tumors that occur in the lungs, kidneys, ovaries, and thyroid are most common. Affected people can develop one or more types of tumors. Members of the same family can have different types. Learn more about DICER1 syndrome.

Familial adenomatous polyposis (FAP)

Familial adenomatous polyposis (FAP) is a condition that mostly affects the digestive system. People with familial adenomatous polyposis typically develop abnormal tissue growths called polyps in the large and small intestines. Some polyps can become cancerous if they are not removed. People with familial adenomatous polyposis are at high risk to develop colon cancer and other digestive system cancers at a young age. People with familial adenomatous polyposis are at increased risk to develop other tumors, cancers, or physical issues. Learn more about familial adenomatous polyposis.

Hereditary neuroblastoma

Neuroblastoma is a type of cancer that grows from immature nerve cells called neuroblasts. It mainly affects children before the age of 5 years and rarely occurs in adults. A neuroblastoma develops when neuroblasts grow uncontrollably to form a tumor. Most of the time, the tumor begins in the nerve tissue of the adrenal glands. Sometimes neuroblastomas begin in the nerve cells of the abdomen, chest, neck or pelvis. Learn more about hereditary neuroblastoma.

Hereditary paraganglioma-pheochromocytoma syndrome

Hereditary paraganglioma-pheochromocytoma syndrome is a condition in which tumors develop in structures called paraganglia. Read more about hereditary paraganglioma-pheochromocytoma syndrome.

Hereditary retinoblastoma

Retinoblastoma is an eye cancer most often diagnosed in young children before the age of 5. The cancer develops in the part of the eye called the retina. The hereditary form of retinoblastoma usually affects both eyes, but in some cases it may only develop in one eye. Individuals with hereditary retinoblastoma may be at increased risk for tumors in other parts of the body, including the skin, bone, soft tissue, and brain. Learn more about hereditary retinoblastoma.

Li-Fraumeni syndrome (LFS)

Li-Fraumeni syndrome (LFS) is a rare condition that makes an affected person more likely to develop one or more cancers during his or her lifetime. It is usually inherited from a family member.

The most common cancers associated with LFS are: soft tissue sarcoma, osteosarcoma, brain and central nervous system (CNS) tumors, adrenocortical carcinoma, acute leukemia, and breast cancer.

Learn more about Li-Fraumeni syndrome.

Multiple endocrine neoplasia type 1

Multiple endocrine neoplasia type 1 is a genetic condition that increases the risk of developing cancerous and non-cancerous tumors. Most of these tumors develop in the endocrine system. Learn more about multiple endocrine neoplasia type 1.

Multiple endocrine neoplasia type 2

Multiple endocrine neoplasia type 2 is a genetic condition that increases the risk of developing cancer in the endocrine system. People with multiple endocrine neoplasia type 2 have an increased risk of developing medullary thyroid cancer (MTC) and pheochromocytomas, which are tumors of the adrenal gland. People with this condition may also develop other types of abnormal growths in endocrine tissues or glands. Learn more about multiple endocrine neoplasia type 2.

Neurofibromatosis type 1

Neurofibromatosis type 1 is an inherited disorder that can affect many areas of the body. These areas include the skin, eyes, bones, blood vessels, and the nervous system. People with neurofibromatosis type 1 also have a higher risk of developing certain kinds of cancerous and non-cancerous tumors. These conditions include neurofibromas, central nervous system tumors, pheochromocytomas, leukemias, and gastrointestinal stromal tumors (GIST). The severity of the condition and which body areas are affected can vary from person to person. Learn more about neurofibromatosis type 1.

Neurofibromatosis type 2

Neurofibromatosis type 2 is a genetic condition that mainly affects the nervous system. People with neurofibromatosis type 2 are at increased risk to develop tumors within their nerves. The most common type of tumor in people with neurofibromatosis type 2 is vestibular schwannoma (also known as acoustic neuroma). In patients with neurofibromatosis type 2, vestibular schwannomas usually develop on both auditory nerves at an average age of 18-24. Almost all patients with neurofibromatosis type 2 will develop bilateral vestibular schwannomas by age 30. Learn more about neurofibromatosis type 2.

Nevoid basal cell carcinoma syndrome (Gorlin syndrome)

Nevoid basal cell carcinoma syndrome is a condition in which people have a higher risk of developing certain kinds of cancerous and non-cancerous tumors. Tumors may develop in the skin, jaw, heart, ovaries, and brain. People with nevoid basal cell carcinoma syndrome may also have physical differences such as large head size sometimes caused by too much fluid in the brain, tiny white bumps on the face, extra fingers and toes, cleft lip and palate, and mental and learning challenges. Learn more about nevoid basal cell carcinoma.

Noonan syndrome

People with Noonan syndrome are at a slightly increased risk of developing some types of cancers and blood disorders. These conditions include myeloproliferative disorder, juvenile myelomonocytic leukemia, neuroblastoma, and embryonal rhabdomyosarcoma. People with Noonan syndrome are also at a slightly increased risk of developing certain noncancerous tumors such as giant cell lesions and granual cell tumors. Learn more about Noonan syndrome.

Peutz-Jeghers syndrome

Peutz-Jeghers syndrome is a genetic condition that increases a person’s risk of developing certain types of cancer. These cancers include stomach, esophageal, intestinal, pancreatic, colon, rectal, breast, uterine, cervical, lung, ovarian, and testicular. People with Peutz-Jeghers syndrome also have a higher risk of developing non-cancerous growths called polyps in the digestive system. Cancerous and non-cancerous growths may also appear in the kidneys, lungs, gallbladder, nasal passages, bladder or ureters. People with Peutz-Jeghers syndrome often also have small, dark-colored spots that look like freckles on some parts of their skin. Learn more about Peutz-Jeghers syndrome.

PTEN hamartoma tumor syndrome

PTEN hamartoma tumor syndrome is a genetic condition in which non-cancerous growths, called hamartomas, develop in different areas of the body. In addition to hamartomas, patients can have other physical findings, including larger-than-average head size, abnormal skin growths, and learning differences. People with PTEN hamartoma tumor syndrome are at higher risk of developing breast, thyroid, kidney, uterus, colorectal, and skin cancers. Read more about PTEN hamartoma tumor syndrome.

Rhabdoid tumor predisposition syndrome

People who have rhabdoid tumor predisposition syndrome have an increased risk of developing a rhabdoid tumor. These fast-growing tumors often occur in the brain, spinal cord, and kidneys. Cancers may also develop in the soft tissues, lung, skin, and heart. These tumors are most common in children. People with rhabdoid tumor predisposition syndrome may also be at increased risk of developing non-cancerous tumors that grow in the nerves, called schwannomas. These tumors are more common in adults. Learn more about rhabdoid tumor predisposition syndrome.

Tuberous sclerosis complex

Tuberous sclerosis complex is a genetic disorder that may cause noncancerous tumors to occur in the skin, brain, kidneys, and other organs. Sometimes these tumors lead to significant health problems. Tuberous sclerosis complex also causes developmental problems. The signs and symptoms of the condition vary. Almost all affected people have skin abnormalities, including patches of unusually light-colored skin, areas of raised and thickened skin, and growths under the nails. Tumors on the face called facial angiofibromas are also common beginning in childhood. Read more about tuberous sclerosis syndrome.

Von Hippel-Lindau syndrome

Von Hippel-Lindau syndrome is a rare condition that makes a person more likely to develop certain non-cancerous and cancerous tumors. People with von Hippel-Lindau syndrome may develop central nervous system and retina tumors called hemangioblastomas, tumors of the inner ear called endolymphatic sac tumors, kidney cysts or cancer, pancreatic cysts or cancer, adrenal gland tumors known as pheochromocytomas, and genital tract tumors called papillary cystadenomas. Read more about Von Hippel-Lindau syndrome.

WT1-related syndromes

WT1-related Wilms tumor susceptibility syndromes are conditions that can affect the kidneys. People with these conditions have a greater risk of developing a cancerous tumor of the kidney known as Wilms tumor. People with WT1-related syndromes may have other medical issues. These may include problems with the reproductive organs, eyes, and sometimes with behavior or development. Read more about WT1-related Wilms tumor susceptibility syndromes.

X-linked lymphoproliferative syndrome

X-linked lymphoproliferative syndrome (XLP) is a very rare disorder in which the immune system does not work properly. People with XLP have an increased chance to develop a severe reaction called fulminant infectious mononucleosis (FIM). With FIM too many immune cells become activated and build up in different parts of the body, including the liver, spleen, bone marrow and brain. This reaction is sometimes also called “hemophagocytic lymphohistiocytosis” (HLH). People with XLP are almost always male. The condition is diagnosed in fewer than 1 out of 1,000,000 boys or young men per year. Read more about X-linked lymphoproliferative syndrome (XLP).

Xeroderma pigmentosum

Xeroderma pigmentosum, which is commonly known as XP, is an inherited condition characterized by an extreme sensitivity to ultraviolet (UV) rays from sunlight. This condition mostly affects the eyes and areas of skin exposed to the sun. Some affected individuals also have problems involving the nervous system. People with xeroderma pigmentosum have a greatly increased risk of developing skin cancer. Without sun protection, about half of children with this condition develop their first skin cancer by age 10. Most people with xeroderma pigmentosum develop multiple skin cancers during their lifetime. These cancers occur most often on the face, lips, and eyelids. Cancer can also develop on the scalp, in the eyes, and on the tip of the tongue. Studies suggest that people with xeroderma pigmentosum may also have an increased risk of other types of cancer such as brain tumors. Also, affected individuals who smoke cigarettes have a significantly increased risk of lung cancer. Read more about xeroderma pigmentosum.