4-Layered Lissencephaly
4-layered lissencephaly is a “smooth brain” condition where the outer part of the brain (the cerebral cortex) does not form normal folds (gyri) and grooves (sulci), and the cortex is also too thick ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Classic Lissencephaly
Classic lissencephaly (also called type 1 lissencephaly) is a rare brain problem that starts before birth, when the baby is still in the womb. In this condition, the outer surface of the brain looks ...
Hyperhomocysteinemic Syndrome
Hyperhomocysteinemic syndrome means a person has too much homocysteine in the blood, usually above about 15 micromoles per liter (µmol/L). Homocysteine is a normal amino acid made when the body ...
Homocystinuria due to Cystathionine Beta-synthase (CBS) Deficiency
Homocystinuria due to cystathionine beta-synthase (CBS) deficiency is a rare genetic disease where the body cannot properly break down the amino acid methionine. Because the CBS enzyme does not work ...
Homocystinuria Caused by Cystathionine Beta-synthase Deficiency
Homocystinuria caused by cystathionine beta-synthase deficiency is a rare genetic disease. In this condition, the body cannot use an amino acid called methionine in the normal way. Because of this, ...
Deficiency of Serine Sulfhydrase
Deficiency of serine sulfhydrase means that a special body enzyme called cystathionine-beta-synthase (CBS) does not work properly or is missing. This enzyme normally changes two amino acids, ...
Classic Homocystinuria
Classic homocystinuria is a rare genetic disease where the body cannot break down an amino acid called homocysteine properly because an enzyme named cystathionine beta-synthase (CBS) does not work or ...
Transferase Deficiency Galactosemia Type 1
Transferase deficiency galactosemia type 1 (often called classic galactosemia) is a rare genetic disease where the body cannot properly break down a milk sugar called galactose. This happens because ...
Deficiency of Hexose-1-Phosphate Uridylyltransferase
Deficiency of hexose-1-phosphate uridylyltransferase means that the body has very low or no activity of an enzyme called galactose-1-phosphate uridylyltransferase (GALT). This enzyme normally helps ...
Deficiency of Galactose-1-Phosphate Uridyl Transferase
Deficiency of galactose-1-phosphate uridyl transferase (usually written GALT deficiency) is a genetic disease where the body is missing, or has very low activity of, an enzyme needed to break down a ...
Classic Galactosemia
Classic galactosemia is a rare genetic disease that affects how the body uses a sugar called galactose, which is found in milk and many milk-based foods. In this disease, the body does not have ...
Classic Familial Adenomatous Polyposis
Classic familial adenomatous polyposis is an inherited disease where a person grows hundreds to thousands of small growths, called polyps, inside the large intestine (colon) and rectum. These polyps ...
21-Hydroxylase-Deficient Congenital Adrenal Hyperplasia (CAH)
21-hydroxylase-deficient congenital adrenal hyperplasia (CAH) is a genetic disease that affects how the adrenal glands make important hormones called cortisol and aldosterone. The adrenal glands are ...
Classic Congenital Adrenal Hyperplasia (CAH) due to 21-Hydroxylase Deficiency
Classic congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a genetic disease that affects the adrenal glands, which are small organs that sit on top of each kidney. In this ...
Autosomal Dominant Intellectual Disability 49
Autosomal dominant intellectual disability 49 is a very rare genetic brain-development problem. It is also called Clark-Baraitser syndrome and is caused by a change (mutation) in one copy of a gene ...
Clark-Baraitser Syndrome
Clark-Baraitser syndrome (often shortened to CLABARS) is a very rare genetic condition that affects how a child’s brain, body growth, and face develop. Children usually have learning problems, ...
CLAPO Syndrome
CLAPO syndrome is a very rare health condition that mostly affects the skin, blood vessels, lymph vessels, and the growth of some body parts. The name “CLAPO” is built from its main signs: Capillary ...
X-linked intellectual disability–microcephaly–cortical malformation–thin habitus syndrome
X-linked intellectual disability–microcephaly–cortical malformation–thin habitus syndrome is a very rare genetic disease that mainly affects boys. Doctors also call it CK syndrome. In this condition, ...
CK Syndrome
CK syndrome is a very rare genetic brain and body disorder that mainly affects boys and starts in early life. It is an X-linked recessive condition, which means the faulty gene sits on the X ...
Adult-Onset Citrin Deficiency
Adult-onset citrin deficiency is a rare, lifelong genetic disease that mainly affects the liver and the brain. In this condition, a gene called SLC25A13 does not work properly. This gene normally ...
Citrullinemia Type II
Citrullinemia type II is a rare inherited disease in which the liver cannot use a substance called citrin properly, so ammonia and some amino acids build up in the blood. This problem happens because ...
Argininosuccinate Synthetase Deficiency (ASS1 Deficiency)
Argininosuccinate synthetase deficiency (ASS1 deficiency) is a rare, inherited disease of the urea cycle. The urea cycle is the process in the liver that changes extra nitrogen (in the form of ...
Argininosuccinate Synthase 1–Gene Related Citrullinemia Type I
Argininosuccinate synthase 1–gene related citrullinemia type I is a rare, serious genetic disease of the urea cycle. In this disease the ASS1 gene does not work properly, so the enzyme ...
Citrullinemia Type I
Citrullinemia type I is a rare inherited disease of the urea cycle, which is the process in the liver that removes extra nitrogen from the body. In this disease, the body cannot remove nitrogen ...
Dystonia-Parkinsonism-Hypermanganesemia-Polycythemia and Chronic Liver Disease
Dystonia-parkinsonism-hypermanganesemia-polycythemia and chronic liver disease is a very rare inherited disease. In this condition, a gene called SLC30A10 does not work properly. Because of this, the ...
Cirrhosis–Dystonia–Polycythemia–Hypermanganesemia Syndrome
Cirrhosis–dystonia–polycythemia–hypermanganesemia syndrome is a very rare genetic disease where the body cannot properly remove extra manganese, a metal that is normally needed in very small amounts. ...
Ciliary Dyskinesia with Transposition of Ciliary Microtubules
Ciliary dyskinesia with transposition of ciliary microtubules is a rare genetic problem that affects tiny hair-like structures in the body called cilia. Cilia sit on the surface of cells in the nose, ...
Familial Partial Lipodystrophy Type 5 (FPLD5)
Familial partial lipodystrophy type 5 (FPLD5) is a very rare genetic disease where fat under the skin (subcutaneous fat) is lost from some parts of the body but kept or even increased in other parts. ...
Cell Death-Inducing DFFA-Like Effector C–related Familial Partial Lipodystrophy (CIDEC-related FPLD)
Cell death-inducing DFFA-like effector C–related familial partial lipodystrophy (CIDEC-related FPLD) is a very rare inherited disease where a change (mutation) in the CIDEC gene makes fat cells ...
Anderson Syndrome
“Anderson syndrome” in most modern medical books means Andersen–Tawil syndrome, a very rare genetic disease that affects the heart rhythm, the muscles, and the shape of the face, hands, feet, and ...
Anderson disease
Anderson disease is another name for chylomicron retention disease (CMRD), a very rare, inherited problem where the small intestine cannot properly release fat particles called chylomicrons into the ...
Chylomicron Retention Disease
Chylomicron retention disease is a very rare inherited disease where the small intestine cannot release fat particles (called chylomicrons) into the blood after you eat. Because these fat particles ...
Von Hippel-Lindau-Dependent Polycythemia
Von Hippel-Lindau-dependent polycythemia is a very rare blood disease where the body makes too many red blood cells because of a change (mutation) in the VHL (von Hippel-Lindau) gene. This gene helps ...
Familial Polycythemia Caused by Mutation in the VHL Gene
Familial polycythemia caused by mutation in the VHL gene is a rare genetic blood disease where a person is born with too many red blood cells because their body “thinks” it is low in oxygen even when ...
Autosomal Recessive Benign Erythrocytosis
Autosomal recessive benign erythrocytosis is a rare inherited blood disease. It means the body makes too many red blood cells from birth or early life. “Autosomal recessive” means a child must get ...
Chuvash Polycythemia
Chuvash polycythemia is a rare blood disease that you are born with. In this condition, the body makes too many red blood cells even when oxygen levels are normal. The extra red blood cells make the ...
Chudley-McCullough Syndrome
Chudley-McCullough syndrome (often shortened to CMS or CMCS) is a very rare genetic condition. It mainly causes strong hearing loss in both ears and special structural changes in the brain that can ...
Chronic Myelocytic Leukemia (CML)
Chronic myelocytic leukemia (CML) is a cancer of the blood and bone marrow, the soft part inside your bones that makes blood cells. In CML, a change (mutation) in the bone marrow stem cells makes too ...
Chronic Multifocal Osteomyelitis
Chronic multifocal osteomyelitis is a long-lasting inflammation of several bones that comes and goes over time. It usually happens in children and teenagers, and it is not caused by germs such as ...
Chronic Mucocutaneous Candidiasis (CMC)
Chronic mucocutaneous candidiasis (CMC) is a rare immune system disorder where the body cannot properly fight Candida (yeast) infections on the skin, nails, and moist surfaces like the mouth, throat, ...
Chronic Candidiasis of the Mucosa Skin and Nails
Chronic candidiasis of the mucosa, skin, and nails is a long-lasting or repeatedly returning yeast infection caused most often by Candida (especially Candida albicans). It mainly affects “surface” ...
Chronic Lymphocytic Inflammation with Pontine Perivascular Enhancement Responsive to Steroids (CLIPPERS)
Chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) is a rare, long-lasting inflammation of the central nervous system (CNS). It mainly affects ...
Infantile-Onset Multisystem Inflammatory Disease
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 body, such as the skin, joints, brain, ...
Chronic Neurologic Cutaneous and Articular Syndrome (CINCA Syndrome)
Chronic neurologic cutaneous and articular syndrome (CINCA syndrome) is a very rare, life-long inflammatory disease that starts in the newborn period or early infancy. It is caused by a mistake in a ...
Chronic Hiccough
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 word persistent hiccups when they last ...
Chronic Hiccup
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 between your vocal cords closes and ...
Quie Syndrome
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 properly. These white blood cells are ...
Congenital Dysphagocytosis
Congenital dysphagocytosis is an old medical name for a serious inherited immune system disease that doctors now call chronic granulomatous disease (CGD). In this disease, some white blood cells ...
Chronic Septic Granulomatosis
Chronic septic granulomatosis is another name for chronic granulomatous disease (CGD), a rare inherited immune deficiency where some white blood cells (phagocytes) cannot properly kill certain ...
Chronic Granulomatous Disease (CGD)
Chronic granulomatous disease (CGD) is a rare, lifelong problem of the immune system. In this disease, some white blood cells called phagocytes (mainly neutrophils and monocytes) cannot kill certain ...
Chronic Enteropathy Associated with Solute Carrier Organic Anion Transporter Family Member 2A1 Gene
Chronic enteropathy associated with solute carrier organic anion transporter family member 2A1 gene (usually shortened to “CEAS” or “chronic enteropathy associated with SLCO2A1”) is a rare inherited ...
Chronic Enteropathy Associated with SLCO2A1 Gene (CEAS)
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, especially in the ileum, and do not heal ...
KRAS-Mutated Juvenile Myelomonocytic Leukemia (JMML)
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 in the bone marrow, where blood cells ...
NRAS-Mutated Juvenile Myelomonocytic Leukemia (JMML)
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 in the bone marrow, which is the soft ...
Chronic Bilirubin Encephalopathy
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 baby’s brain. Bilirubin is usually ...
Chronic Beryllium Lung Disease
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 environment. In some people, the immune ...
Chronic Beryllium Poisoning
Chronic beryllium poisoning, usually called chronic beryllium disease (CBD) or berylliosis, is a long-term lung disease caused by breathing in tiny particles of the metal beryllium over time. The ...
Beryllium Granuloma
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 off.” It most often happens in the skin ...
Chronic Beryllium Disease (CBD)
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 beryllium particles are breathed into the ...
Chronic Atrial Dysrhythmia–Intestinal Motility Disorder
Chronic atrial dysrhythmia–intestinal motility disorder, also called chronic atrial and intestinal dysrhythmia (CAID), is a rare genetic disease that affects both the heart and the intestines at the ...
Chronic Atrial and Intestinal Dysrhythmia (CAID)
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 condition the natural “pacemaker” of the heart ...
Int22h1/int22h2-Mediated Xq28 Recurrent Microduplication Syndrome
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 more time than normal. This extra copy ...
Chromosome Xq28 Duplication Syndrome
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 extra copy means some genes in that ...
Glycerol Kinase Deficiency-Contiguous Gene Syndrome
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 missing, and this missing piece contains ...
Chromosome Xp21 Deletion Syndrome
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). Because that missing piece can contain more ...
X-Linked Dominant Xp11.23–p11.22 Duplication Syndrome
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 copied-extra piece (duplication) on the ...
Chromosome Xp11.23–p11.22 Duplication Syndrome
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 (“p” arm) of the X chromosome, in the ...
Partial Deletion of the Short Arm of Chromosome 9
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 cells. Because genes are made from DNA ...
Alfi Syndrome
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 missing, the body and brain may not develop ...
Chromosome 9p Deletion Syndrome
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.” Because genes are lost, the body and brain ...
Chromosome 8q21.11 Deletion Syndrome
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 region called 8q21.11. This missing piece ...
Chromosome 8q12.1-q21.2 Deletion Syndrome
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, between the bands called ...
Chromosome 8-Derived Supernumerary Ring/Marker
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. This extra piece can be shaped like a ring ...
Chromosome 6q24–q25 Deletion Syndrome
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 and 25. Because genes in this area help ...
6p Subtelomeric Deletion Syndrome
6p subtelomeric deletion syndrome (also called chromosome 6pter-p24 deletion syndrome, distal deletion 6p, 6p25 microdeletion syndrome or distal monosomy 6p) is a rare genetic condition where a small ...
Chromosome 6pter-p24 Deletion Syndrome
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 6, from the very end (pter) up to the ...
Chromosome 5q12 Deletion Syndrome
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 5q12 region. This missing piece removes or ...
Chromosome 5p13 Duplication Syndrome
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 in the area called 5p13. This extra copy ...
Chromosome 4q21 Deletion Syndrome
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 arm) of chromosome 4 in the region ...
Chromosome 3q29 Microduplication Syndrome
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 copied one extra time. So, instead of having ...
3q29 Recurrent Microdeletion Syndrome
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 place called 3q29. A chromosome is like ...
3q Subtelomere Deletion Syndrome
3q subtelomere deletion syndrome is another name for chromosome 3q29 microdeletion syndrome, a rare genetic condition where a very small piece is missing from the end (subtelomeric region) of the ...
Chromosome 3q29 Microdeletion Syndrome
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 (“q”) at a place called q29. Because a few ...
Chromosome 3q13.31 Deletion Syndrome
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 3q13.31. This missing piece removes one ...
Glass Syndrome
Glass syndrome is a rare genetic condition that affects the brain, face, teeth, bones, and behaviour. Doctors now usually call it SATB2-associated syndrome, because most people with Glass syndrome ...
Chromosome 2q32-q33 Deletion 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 missing piece includes an important gene ...
Chromosome 2p16.1-p15 Deletion Syndrome
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 region called 2p16.1-p15. This missing ...
Chromosome 22q11.2 Microduplication Syndrome
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 piece is called a “microduplication.” ...
Distal Chromosome 22q11.2 Deletion Syndrome
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 the classic DiGeorge/velocardiofacial ...
Chromosome 1q41-q42 Deletion Syndrome
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 called 1q41-q42. This missing piece ...
Chromosome 1q21.1 Recurrent Microduplication Susceptibility Locus for Neurodevelopmental Disorders
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 copied piece is in the 1q21.1 region of ...
Chromosome 1q21.1 Duplication Syndrome
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 the long arm at position q21.1. This ...
1q21.1 Recurrent Microdeletion Susceptibility Locus for Neurodevelopmental Disorders
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 normal, and the other has a small segment ...
Chromosome 1q21.1 Deletion Syndrome
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 chromosome 1 at position 21.1. Because ...
Partial Deletion of the Long Arm of Chromosome 1
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 cells of the body. Every person usually ...
1p36 Microdeletion Syndrome
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 arm (called “p”) at band 36, is missing ...
Chromosome 1p36 Deletion Syndrome
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 1p36 region). This missing piece removes ...
Chromosome 1p32-p31 Deletion Syndrome
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, in the region called 1p32 to 1p31. This ...
Chromosome 19q13.11 Deletion Syndrome
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 19, in a region called 19q13.11. This ...
Chromosome 18 Mosaic Monosomy
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, while other cells have the normal two ...
Chromosome 17q23.1-q23.2 Deletion Syndrome
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 17, between bands q23.1 and ...
Chromosome 17q21.31 Duplication Syndrome
Chromosome 17q21.31 duplication syndrome (also called 17q21.31 microduplication syndrome) is a rare genetic condition where a small extra piece of chromosome 17 is present in the long arm region ...
Chromosome 17q12 Duplication Syndrome
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 extra piece of DNA is present in almost ...
Chromosome 17q12 Deletion Syndrome
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 long arm of the chromosome at a place ...
Van Asperen Syndrome
Van Asperen syndrome is another name for a rare genetic condition called NF1 microdeletion syndrome or chromosome 17q11.2 deletion syndrome. In this condition, a small piece of chromosome 17 is ...
RNF135-Related Overgrowth Syndrome
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 called RNF135 on chromosome 17 (region ...
Overgrowth-Macrocephaly-Facial Dysmorphism Syndrome
Overgrowth-macrocephaly-facial dysmorphism syndrome is a very rare genetic condition where a baby or child grows taller and bigger than expected, has a larger-than-average head, and has a typical, ...
Neurofibromatosis 1 Microdeletion Syndrome
Neurofibromatosis 1 microdeletion syndrome is a rare genetic condition where a small piece of chromosome 17, including the NF1 gene and nearby genes, is missing. This missing piece is called a ...
Macrocephaly Macrosomia and Facial Dysmorphism Syndrome
Macrocephaly, macrosomia, and facial dysmorphism syndrome (often shortened to MMFD) is a very rare genetic overgrowth condition. Children with this syndrome usually have a very large head ...
Chromosome 17q11.2 Deletion 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 includes the NF1 gene and several ...
Chromosome 17p13.3 Centromeric Duplication Syndrome
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 (p) of chromosome 17, in the band called ...
Chromosome 17p13.3 Duplication Syndrome
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 piece of DNA on the short arm (p arm) ...
