Chronic mucocutaneous candidiasis (CMC) is a long-lasting infection with Candida (a yeast or fungus) that keeps coming back on the skin, nails, and wet body ...
Dr. Samantha A. Vergano, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist.
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare, long-lasting inflammation of the central ...
Chronic intestinal pseudo-obstruction (CIPO) is a rare long-term disease where the intestine looks and behaves like it is blocked, but doctors cannot find any ...
Chronic inflammatory demyelinating polyneuropathy (CIDP) is a long-lasting disease of the peripheral nerves, which are the nerves outside the brain and spinal ...
Chronic relapsing polyneuropathy is the older name for a disease that doctors now usually call chronic inflammatory demyelinating polyneuropathy (CIDP). It is ...
Chronic inflammatory demyelinating polyradiculoneuropathy (CIDP) is a long-lasting disease where the body’s own immune system attacks the covering of the ...
Prieur–Griscelli syndrome is another name for a very rare disease called neonatal-onset multisystem inflammatory disease (NOMID) or chronic infantile ...
Neonatal-onset multisystem inflammatory disease (NOMID) is a very rare genetic disease where the immune system is “over-active” from birth and causes strong, ...
Infantile-onset multisystem inflammatory disease is a very rare genetic illness where a baby is born with strong, ongoing inflammation in many parts of the ...
Chronic neurologic cutaneous and articular syndrome (CINCA syndrome) is a very rare, life-long inflammatory disease that starts in the newborn period or early ...
Singultus is the medical word for hiccups. It means short, sudden, jerky breaths that you cannot control. These happen because the main breathing muscle (the ...
Chronic hiccough (also spelled hiccough or singultus) means hiccups that go on for a long time and do not stop in the usual few minutes. Doctors often use the ...
Chronic Hiccup is a sudden, quick tightening (spasm) of the breathing muscle under your lungs, called the diaphragm. Right after this spasm, the small opening ...
Quie syndrome is another name for a disease called chronic granulomatous disease (CGD). In this disease, some white blood cells that fight germs do not work ...
Congenital dysphagocytosis is an old medical name for a serious inherited immune system disease that doctors now call chronic granulomatous disease (CGD). In ...
Chronic septic granulomatosis is another name for chronic granulomatous disease (CGD), a rare inherited immune deficiency where some white blood cells ...
Bridges–Good syndrome is another name for a rare illness called chronic granulomatous disease (CGD). In this disease, some white blood cells (called ...
Chronic granulomatous disease (CGD) is a rare, lifelong problem of the immune system. In this disease, some white blood cells called phagocytes (mainly ...
Chronic graft-versus-host disease (chronic GVHD or cGVHD) is a long-lasting problem that can happen after an allogeneic stem cell or bone marrow transplant. In ...
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (usually shortened to “CEAS” or “chronic enteropathy ...
Chronic enteropathy associated with SLCO2A1 gene (CEAS) is a rare inherited bowel disease in which many long-lasting small ulcers form in the small intestine, ...
CBL-mutated juvenile myelomonocytic leukemia is a rare blood cancer that happens in babies and young children when the CBL gene is damaged (mutated) in their ...
NF1-associated juvenile myelomonocytic leukemia (NF1-JMML) is a rare blood cancer that happens in young children who already have neurofibromatosis type 1 ...
KRAS-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens mostly in very young children, usually under 4 years of age. It starts ...
NRAS-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens mostly in very young children, usually under 4 years of age. It starts ...
PTPN11-mutated juvenile myelomonocytic leukemia (JMML) is a rare blood cancer of early childhood in which young bone-marrow cells that normally form white ...
Juvenile myelomonocytic leukemia (JMML) is a rare blood cancer that happens almost only in babies and very young children, usually under 4 years old. It starts ...
Chronic diarrhea with villous atrophy means a person has loose or watery stools that last for more than four weeks, and a biopsy from the small intestine shows ...
Maltase-glucoamylase deficiency is a rare problem in the small intestine where the body cannot properly break down starch (long chains of glucose) into single ...
Chronic diarrhea due to glucoamylase deficiency is a rare gut disease where the small intestine does not have enough of the enzyme glucoamylase (also called ...
Kernicterus spectrum disorder is part of a group of problems caused by very high levels of bilirubin hurting a baby’s brain. Doctors and researchers use ...
Bilirubin-induced neurological dysfunction (BIND) is brain damage that happens when a baby has very high levels of a yellow substance in the blood called ...
Chronic bilirubin encephalopathy is a long-term brain injury that happens when very high levels of bilirubin (a yellow pigment from red blood cells) damage a ...
Chronic beryllium lung disease is a long-lasting lung illness that happens after breathing in very small particles of the metal beryllium at work or in the ...
Chronic beryllium poisoning, usually called chronic beryllium disease (CBD) or berylliosis, is a long-term lung disease caused by breathing in tiny particles ...
Beryllium granuloma is a small lump made of immune cells that forms when beryllium metal or its dust gets into the body and the immune system tries to “wall it ...
Berylliosis is a long-term lung disease caused by breathing in a metal called beryllium at work or in the environment. In berylliosis, the immune system ...
Chronic beryllium disease (CBD) is a long-term lung disease that happens when a person’s immune system reacts strongly to a metal called beryllium. Tiny ...
Chronic atrial dysrhythmia–intestinal motility disorder, also called chronic atrial and intestinal dysrhythmia (CAID), is a rare genetic disease that affects ...
Chronic atrial and intestinal dysrhythmia (CAID) is a very rare genetic disease that affects both the heart and the intestines at the same time. In this ...
Int22h1/int22h2-mediated Xq28 recurrent microduplication syndrome is a rare genetic condition where a very small extra piece of the X chromosome is copied one ...
Chromosome Xq28 duplication syndrome is a rare genetic condition. A small extra piece of the X chromosome is copied (duplicated) in a region called “q28.” This ...
Glycerol kinase deficiency-contiguous gene syndrome is a very rare genetic disease that happens when a small piece of the X chromosome (area called Xp21) is ...
Chromosome Xp21 deletion syndrome is a rare genetic condition. It happens when a small piece of the X chromosome (in the Xp21 area) is missing (deleted). ...
X-linked dominant Xp11.23–p11.22 duplication syndrome (also called Xp11.22–p11.23 duplication / microduplication syndrome) is a rare genetic condition where a ...
Chromosome Xp11.23–p11.22 duplication syndrome is a rare genetic condition where a person has an extra copy (a duplication) of a small segment on the short arm ...
Partial deletion of the short arm of chromosome 9” means a person is missing a piece of DNA from the short arm (called “p”) of chromosome 9 in some or all body ...
Alfi syndrome is a rare genetic condition that happens when a person is missing a piece of chromosome 9 from the short arm (called “9p”). Because genes are ...
Chromosome 9p deletion syndrome happens when a small piece of the short arm (“p arm”) of chromosome 9 is missing. This missing piece is called a “deletion.” ...
Chromosome 8q21.11 deletion syndrome is a very rare genetic condition. A small piece is missing (deleted) from the long arm (q arm) of chromosome 8, in a ...
Chromosome 8q12.1-q21.2 deletion syndrome is a very rare genetic condition. In this condition, a small piece is missing (deleted) from the long arm (q arm) of ...
Chromosome 8-derived supernumerary ring/marker is a very rare chromosome problem where a person has a tiny extra chromosome made from part of chromosome 8. ...
Chromosome 6q24–q25 deletion syndrome is a rare genetic condition where a small piece is missing from the long arm (q arm) of chromosome 6 between positions 24 ...
6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) ...
Chromosome 6pter-p24 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the short arm (p arm) of ...
Chromosome 5q12 deletion syndrome is a very rare genetic condition where a small piece is missing (deleted) from the long arm (q arm) of chromosome 5 in the ...
Chromosome 5p13 duplication syndrome is a rare genetic condition where a small extra piece of DNA is copied (duplicated) on the short arm (p) of chromosome 5 ...
Chromosome 4q21 deletion syndrome (also called 4q21 microdeletion syndrome) is a rare genetic condition in which a small piece is missing from the long arm (q ...
Chromosome 3q29 microduplication syndrome is a rare genetic condition. In this condition, a very small piece of chromosome 3, at a place called “3q29,” is ...
3q29 recurrent microdeletion syndrome is a rare genetic condition. In this condition, a tiny piece is missing (deleted) from the long arm of chromosome 3, in a ...
3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from ...
Chromosome 3q29 microdeletion syndrome is a genetic condition where a person is missing a small piece of chromosome 3. The missing piece is on the long arm ...
Chromosome 3q13.31 deletion syndrome is a rare genetic condition where a small piece is missing (deleted) from the long arm of chromosome 3, in a region called ...
Glass syndrome is a rare genetic condition that affects the brain, face, teeth, bones, and behaviour. Doctors now usually call it SATB2-associated syndrome, ...
Chromosome 2q32-q33 deletion syndrome is a rare genetic condition where a small piece of chromosome 2, in the area called 2q32 to 2q33, is missing. This ...
Chromosome 2p16.1-p15 deletion syndrome is a rare genetic condition. A very small piece is missing (deleted) from the short arm (“p arm”) of chromosome 2, in a ...
Chromosome 22q11.2 microduplication syndrome means there is a tiny extra piece of DNA on one copy of chromosome 22, in a place called 22q11.2. This small extra ...
Distal chromosome 22q11.2 deletion syndrome is a rare genetic condition where a small piece is missing from the long arm (q arm) of chromosome 22, but outside ...
Chromosome 1q41-q42 deletion syndrome is a rare genetic condition. A small piece is missing (deleted) from the long arm (q arm) of chromosome 1, in a region ...
Recurrent microduplication means that a tiny piece of a chromosome is copied twice, in the same spot, in many unrelated people. In this condition, the extra ...
Chromosome 1q21.1 duplication syndrome (also called 1q21.1 microduplication) is a genetic condition in which a small extra piece of chromosome 1 is present in ...
1q21.1 recurrent microdeletion is a tiny missing piece of DNA on chromosome 1, at a place called “1q21.1.” In this condition, one copy of chromosome 1 is ...
Chromosome 1q21.1 deletion syndrome (also called 1q21.1 microdeletion) happens when a small piece of genetic material is missing from the long arm (q arm) of ...
Partial deletion of the long arm of chromosome 1 means that a small or large piece is missing from the “q arm” (the long arm) of chromosome 1 in some or all ...
1p36 microdeletion syndrome (also called 1p36 deletion syndrome) is a genetic condition that starts before birth. A small piece of chromosome 1, from the short ...
Chromosome 1p36 deletion syndrome is a genetic condition that happens when a small piece is missing from the short arm (p arm) at the end of chromosome 1 (the ...
Chromosome 1p32-p31 deletion syndrome is a rare genetic condition. It happens when a small piece is missing from the short arm (the “p arm”) of chromosome 1, ...
Chromosome 19q13.11 deletion syndrome is a rare genetic condition. It happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome ...
Chromosome 18 mosaic monosomy is a very rare genetic condition. It happens when some of the body’s cells are missing part or all of one copy of chromosome 18, ...
Chromosome 17q23.1-q23.2 deletion syndrome is a very rare genetic condition. In this syndrome, a tiny piece of DNA is missing from the long arm (q arm) of ...
Chromosome 17q21.31 duplication syndrome (also called 17q21.31 microduplication syndrome) is a rare genetic condition where a small extra piece of chromosome ...
Chromosome 17q12 duplication syndrome is a rare genetic condition where a small piece of chromosome 17, at a place called “q12,” is copied one extra time. This ...
Chromosome 17q12 deletion syndrome is a rare genetic condition where a tiny piece of chromosome 17 is missing from each cell. This missing piece sits on the ...
Van Asperen syndrome is another name for a rare genetic condition called NF1 microdeletion syndrome or chromosome 17q11.2 deletion syndrome. In this condition, ...
RNF135-related overgrowth syndrome is a very rare genetic condition. It happens when there is a change (variant) or a small missing piece (deletion) in a gene ...
Overgrowth-macrocephaly-facial dysmorphism syndrome is a very rare genetic condition where a baby or child grows taller and bigger than expected, has a ...
Neurofibromatosis 1 microdeletion syndrome is a rare genetic condition where a small piece of chromosome 17, including the NF1 gene and nearby genes, is ...
Macrocephaly, macrosomia, and facial dysmorphism syndrome (often shortened to MMFD) is a very rare genetic overgrowth condition. Children with this syndrome ...
Chromosome 17q11.2 deletion syndrome is a rare genetic condition where a small piece of chromosome 17 is missing in the area called “q11.2.” This missing piece ...
Chromosome 17p13.3 centromeric duplication syndrome is a very rare genetic condition. In this condition, a tiny extra piece of DNA is present on the short arm ...
Chromosome 17p13.3 duplication syndrome (also called 17p13.3 microduplication syndrome) is a rare genetic condition. It happens when a person has an extra tiny ...
Chromosome 16p13.3 duplication syndrome is a rare genetic condition. It happens when a small extra piece of DNA is present on the short arm (p arm) of ...
Chromosome 16p12.2-p11.2 deletion syndrome is a very rare genetic condition. A small piece is missing (deleted) from the short arm of chromosome 16, between ...
Proximal 16p11.2 microduplication syndrome is a rare genetic condition. A tiny part of chromosome 16, in a region called 16p11.2, is copied one extra time. ...
Proximal 16p11.2 microduplication syndrome is a genetic condition where a very small piece of chromosome 16, at a place called 16p11.2, is copied one extra ...
Chromosome 16p11.2 duplication syndrome is a genetic condition where a small piece of chromosome 16 is copied one extra time. This extra copy sits on the short ...
Chromosome 16 trisomy means there are three copies of chromosome 16 instead of the usual two. This extra chromosome is present in the baby’s cells and changes ...
Drayer syndrome is a rare genetic (chromosomal) condition where a person is missing a small piece from the end (qter) of the long arm (q) of chromosome 15, ...
Chromosome 15q26-qter deletion syndrome is a very rare genetic condition. In this condition, a small piece is missing from the long arm (q-arm) of chromosome ...
Chromosome 15q25 deletion syndrome is a rare genetic condition. In this condition, a small piece of genetic material is missing (deleted) from the long arm (q ...
Chromosome 15q24 deletion syndrome is a rare genetic condition where a small part of the long arm (q arm) of chromosome 15, in the 15q24 region, is missing. ...
Chromosome 15q13.3 microdeletion syndrome happens when a tiny piece is missing (deleted) from the long arm (q) of chromosome 15, in a place called q13.3. This ...
Chromosome 15q11.2 deletion syndrome happens when a very tiny piece is missing from the long arm (q arm) of chromosome 15, in a place called 15q11.2. This ...
Chromosome 13q14 deletion syndrome is a rare genetic condition that happens when a small piece of the long arm (q arm) of chromosome 13 is missing in the 13q14 ...
Chromosome 10q23 deletion syndrome is a rare genetic condition that happens when a small piece is missing (deleted) from the long arm (q arm) of chromosome 10, ...
Chromosome 1 is the largest human chromosome. It has a short arm called “p” and a long arm called “q.” The region between bands 1q12 and 1q21 is a stretch on ...
Chromophobe renal cell adenocarcinoma (usually called chromophobe renal cell carcinoma, chRCC) is a rare type of kidney cancer. It starts in special cells ...
Chromophobe renal cell carcinoma (chromophobe RCC) is a rare type of kidney cancer that starts in the lining cells of the tiny tubes in the kidney that help ...
Mossy foot disease is a long-term swelling of the feet and lower legs that happens when people walk barefoot for many years on special irritant soils, usually ...
Chromoblastomycosis is a long-lasting (chronic) fungal infection that affects the skin and the tissue just under the skin (subcutaneous tissue). In this ...
X-linked intellectual disability-craniofacial dysmorphism-epilepsy-ophthalmoplegia-cerebellar atrophy syndrome is a very rare genetic brain disorder. Doctors ...
X-linked Angelman-like syndrome is a very rare brain and nerve (neurologic) condition that mostly affects boys. It happens when there is a change (mutation) in ...
