Alopecia–intellectual disability–hypergonadotropic hypogonadism (AIHH) syndrome is a very rare genetic condition. Babies are usually born with total hair loss ...
Dr. Nadia Falah, MD - Clinical Genetics, Genomics, Cytogenetics, Biochemical Genetics Specialist
Alopecia-intellectual disability syndrome 2 is a very rare genetic condition. It affects hair growth and brain development. People usually have little or no ...
Shokeir syndrome is a rare and often lethal condition that starts before birth. Babies move very little in the womb (called fetal akinesia). Because of the ...
Alopecia-Epilepsy-Pyorrhea-Intellectual Disability syndrome is a very rare inherited condition. People are born with no hair on the scalp and body (permanent, ...
Alopecia universalis is a severe form of alopecia areata. The immune system attacks hair follicles. Hair falls out from the whole body. That means scalp hair, ...
Generalized atrichia means a person has little or no hair on most or all of the body. “Atri-” means “without,” and “-chia” refers to hair. In many babies with ...
Alopecia universalis means complete loss of hair on the scalp and the whole body. The word congenita means the condition is present at birth or starts very ...
IPP-Gelfand syndrome is a very rare immune system condition in which a person has severe hair loss (often total scalp hair loss, “alopecia totalis”) together ...
Alopecia antibody deficiency is a rare condition where a person has significant hair loss (usually alopecia areata, totalis, or universalis) together with an ...
Perniola-Krajewska-Carnevale syndrome is a very rare genetic condition. Children are usually born healthy in terms of vital signs, but they show two main ...
Alopecia–Intellectual Disability Syndrome is a very rare inherited condition. People with this syndrome have hair loss (sometimes on the whole body, sometimes ...
Alopecia means hair loss. It is not one single disease. It is a group of conditions where hair becomes thin, breaks easily, falls out in patches, or stops ...
Alopecia–Contractures–Dwarfism–Intellectual Disability syndrome (ACD syndrome) is a very rare genetic condition. “Genetic” means it starts before birth because ...
Pulmonary aspergillus disease means a lung problem caused by the mold Aspergillus. The mold lives in soil, dust, plants, old buildings, and indoor air. Most ...
Hinson-Pepys disease is another name for allergic bronchopulmonary aspergillosis (ABPA). It is an allergy-type disease of the lungs. The problem starts when a ...
Allergic aspergillosis” usually means allergic bronchopulmonary aspergillosis (ABPA). It is a strong allergy in the lungs to the mold Aspergillus fumigatus. ...
Allergic Bronchopulmonary Aspergillosis (ABPA) is an allergic disease of the lungs. It happens when your immune system becomes overly sensitive to a common ...
X-linked intellectual disability–hypotonia syndrome is a genetic condition that mainly affects the brain, nerves, and muscles. “X-linked” means the change is ...
Monocarboxylate transporter 8 deficiency is also called Allan-Herndon-Dudley syndrome (AHDS), SLC16A2-related disorder, X-linked intellectual ...
MCT8 deficiency is a rare, X-linked genetic condition that mostly affects boys. A change (pathogenic variant) in the SLC16A2 gene damages a protein called ...
MCT8-specific thyroid hormone cell-membrane transporter deficiency (also called Allan-Herndon-Dudley syndrome, AHDS). MCT8 deficiency is a rare, inherited ...
MCT8 deficiency is a rare, inherited brain-development disorder caused by changes (variants) in a gene called SLC16A2. This gene makes a special “door” or ...
Allan–Herndon syndrome (AHDS) is a rare, X-linked genetic condition that affects how thyroid hormone gets into brain cells. The gene involved is SLC16A2, which ...
Allan–Herndon–Dudley syndrome (AHDS) is a rare genetic brain and body disorder that starts before birth and shows up in early infancy. It happens because a ...
Homogentisic acid oxidase deficiency is a rare, inherited metabolic disorder. It happens when the body cannot make enough of an enzyme called homogentisate ...
Homogentisate 1,2-dioxygenase (HGD) deficiency is a rare, inherited condition in which the body cannot fully break down the amino acids tyrosine and ...
Hereditary ochronosis is a rare genetic condition that happens when the body cannot break down a natural chemical called homogentisic acid (HGA). This problem ...
Alkaptonuria is a rare, lifelong, inherited disease of body chemistry. Your body normally breaks down the amino acids phenylalanine and tyrosine into smaller ...
ACER3 deficiency is a very rare, inherited brain white-matter disease. It starts in infancy and slowly gets worse over time. Children first stop gaining new ...
ACER3-related leukodystrophy is a very rare brain white-matter disease that starts in early childhood. It happens because of harmful changes (variants) in a ...
Alkaline Ceramidase-3 (ACER3) Deficiency is a very rare, inherited white-matter brain disease (a leukodystrophy) that starts in infancy. A change (mutation) in ...
Mannosyltransferase 7–9 deficiency refers to inherited errors in the early steps of building the N-glycan “starter” on a lipid carrier. Think of a conveyor ...
Carbohydrate-Deficient Glycoprotein Syndrome Type 1L (CDG-IL / ALG9-CDG) is a rare, inherited disease. It happens when the ALG9 gene does not work well. This ...
ALG9-Congenital Disorder of Glycosylation (ALG9-CDG) is a rare, inherited disease that affects how the body builds sugar chains (called N-glycans) that are ...
Glucosyltransferase 2 deficiency is a rare, inherited condition where a small “assembly-line” step for building sugar chains on proteins does not work ...
Congenital disorder of glycosylation type 1h (CDG-Ih, also called ALG8-CDG) is a rare, inherited condition that affects the way the body adds sugar chains to ...
Carbohydrate-deficient glycoprotein syndrome type Ih (CDG-Ih)—also called ALG8-CDG—is a very rare, inherited disease that affects how the body builds sugar ...
ALG8-Congenital Disorder of Glycosylation (ALG8-CDG) is a rare, inherited disease. It happens when a child gets two faulty copies of the ALG8 gene—one from ...
Glucosyltransferase-1 deficiency is a rare, inherited metabolic condition. It happens when a gene called ALG6 does not work properly. The ALG6 gene makes an ...
Congenital disorder of glycosylation caused by mutation in ALG6 is a rare inherited disease. It happens when both copies of a gene called ALG6 do not work ...
Carbohydrate-deficient glycoprotein syndrome type Ic (ALG6-CDG) is a rare, inherited disease. It happens when a gene called ALG6 does not work properly. This ...
ALG6–Congenital Disorder of Glycosylation (ALG6-CDG, CDG-Ic) is a rare, inherited condition. It happens when both copies of a gene called ALG6 do not work ...
Mannosyltransferase-6 deficiency is a very rare, inherited condition that affects how the body builds sugar chains on proteins (a process called N-linked ...
Congenital disorders of glycosylation (CDG) are rare, inherited diseases in which the body has trouble attaching sugar chains (called glycans) to proteins and ...
Carbohydrate-deficient glycoprotein syndrome type Id is a rare inherited disease. It affects the way the body adds sugar chains to proteins. This sugar-adding ...
ALG3-CDG is a rare, inherited metabolic disease. It happens when a child receives two faulty copies of the ALG3 gene (one from each parent). The ALG3 gene ...
Mannosyltransferase 2 deficiency is a very rare, inherited condition. It happens when both copies of a gene called ALG2 do not work well. The ALG2 gene makes ...
Congenital Disorder of Glycosylation type 1i (CDG-1i) is a very rare, inherited metabolic disease. It happens because a small change (mutation) in a gene ...
Carbohydrate-deficient glycoprotein syndrome type II is a group of rare, inherited conditions where the body has trouble finishing the “sugar decorations” that ...
ALG2-congenital disorder of glycosylation (ALG2-CDG) is a very rare, inherited condition that affects how the body builds sugar “labels” on proteins (this ...
Mannosyltransferase 8 deficiency—the condition more precisely known as ALG12-congenital disorder of glycosylation (ALG12-CDG, formerly CDG-Ig). Inside our ...
Congenital disorder of glycosylation type 1g is a very rare, inherited disease that affects how the body adds sugar chains to proteins. This sugar-adding ...
ALG12-CDG (CDG-Ig) is a rare, inherited disease that affects how the body adds sugar chains to proteins. This sugar-adding process is called glycosylation. In ...
Congenital Disorders of Glycosylation (CDG) are a large group of rare, inherited conditions where the body has trouble attaching sugar chains (called glycans) ...
Carbohydrate-deficient glycoprotein syndrome type Ip is a very rare, inherited metabolic disease. It affects how the body attaches sugar chains to proteins—a ...
ALG11-CDG is a rare, inherited disease that starts at birth or in early infancy. It happens because a child receives two non-working copies of a gene called ...
Mannosyltransferase 1 deficiency is a rare, inherited metabolic disease. It affects the way the body builds sugar chains on proteins. These sugar chains are ...
Congenital disorders of glycosylation (CDG) are rare, inherited conditions where the body has trouble attaching sugar chains (“glycans”) to proteins and ...
Congenital disorder of glycosylation type Ik is a rare, inherited disease that starts at birth. Doctors now call it ALG1-CDG because the problem is in a gene ...
Carbohydrate-deficient glycoprotein syndrome (CDG) is a group of rare, inherited conditions. In CDG, the body has trouble attaching sugar chains (called ...
ALG1-CDG is a rare, inherited condition that affects how the body attaches sugar chains to proteins and fats. This process is called glycosylation. The ALG1 ...
Alexander disease is a rare brain disorder. It belongs to a group of conditions called leukodystrophies. Leukodystrophies damage the white matter of the brain ...
Aleukemic leukemia cutis means leukemia cells have spread to the skin before they are visible in the blood or clearly found in the bone marrow. In other words, ...
Aldosteronism means your body makes too much aldosterone, a salt-controlling hormone from the adrenal glands (small glands that sit on top of each kidney). ...
A complex neurodevelopmental disorder is a long-term condition that starts early in life because the brain develops in a different way. “Neuro” means brain and ...
An aldosterone-producing adenoma (APA) is a small, benign (non-cancer) tumor in one adrenal gland that makes too much aldosterone. Aldosterone is a hormone ...
Ziprkowski–Margolis syndrome is an extremely rare inherited condition. It causes congenital (from birth) sensorineural hearing loss and patchy skin ...
Wolff–Parkinson–White (WPW) syndrome is a heart problem that you are usually born with. Inside the heart there is an extra “wire” (an accessory pathway) that ...
Albinism–hearing loss syndrome is a rare, inherited condition. A baby is born with very light skin and hair and has permanent hearing loss from birth. The most ...
Alar cartilages hypoplasia–coloboma–telecanthus syndrome is a descriptive label for a birth-difference (a congenital condition) where: the alar ...
Forsius–Eriksson type ocular albinism—today most often referred to as Åland Islands eye disease (AIED). It is an X-linked retinal channelopathy in which ...
Forsius–Eriksson syndrome—also called Åland Islands eye disease (AIED)—is a very rare eye condition present from birth. It mainly affects boys because the gene ...
Åland Islands Eye Disease (AIED), also called Forsius–Eriksson syndrome, is a rare, inherited eye condition that mostly affects boys and men because it is ...
Syndromic bile duct paucity means there are fewer small bile ducts inside the liver than normal, and this shortage occurs as part of a broader syndrome that ...
Arteriohepatic dysplasia—better known as Alagille syndrome (ALGS)—is a rare genetic condition that affects many body systems, mainly the liver and heart. In ...
Alagille–Watson syndrome is a rare genetic condition that affects how several organs develop and work—especially the liver, heart, blood vessels, eyes, bones, ...
Alagille syndrome is a rare genetic condition that affects many body systems. The most common problem is in the liver, where there are too few small bile ducts ...
AAID (Alacrima, Achalasia, and Intellectual Disability Syndrome) is a rare, inherited condition. The three core problems are: Alacrima: very low or ...
Alacrima means the eyes do not make enough tears or, in some people, almost no tears at all. Tears are not only “water.” Healthy tears are a balanced mix of ...
Al-Gazali syndrome is a very rare, inherited condition. Babies are small before birth and after birth. Many joints are stuck in bent positions (joint ...
Al-Gazali–Khidr–Prem Chandran syndrome (also called cherubism with optic atrophy and short stature). This is an extremely rare condition where a child has ...
Light-chain amyloidosis—often shortened to AL amyloidosis—is a disease where abnormal proteins called light chains are made by a small group of blood cells ...
AL amyloidosis is a disease where certain white blood cells in the bone marrow (called plasma cells) make abnormal light-chain proteins. These light chains ...
AKT2-related familial partial lipodystrophy is a rare inherited condition in which the body loses normal fat from some areas (usually the limbs) and keeps or ...
AIDS Dementia Complex (ADC) is brain and nerve injury that happens in some people living with HIV, usually when the immune system has been weak for a long ...
Chronic lymphocytosis of cerebrospinal fluid (CSF)” means there are too many lymphocytes (a type of white blood cell) in the CSF for a long time. CSF is the ...
“Encephalopathy” means a problem with brain function. “Intracranial calcification” means tiny calcium deposits inside the brain. Put together, encephalopathy ...
Cree encephalitis is a genetic disorder that causes long-lasting inflammation in the brain and its white matter. It usually starts in infancy or early ...
Aicardi-Goutières syndrome is a rare genetic disease. It mainly affects the brain, immune system, and skin. Babies or young children develop brain inflammation ...
Agenesis of the corpus callosum with chorioretinal abnormality is a rare neuro-eye disorder that begins before birth. The main brain bridge (the corpus ...
Aicardi syndrome is a rare brain and eye development disorder that almost always affects baby girls. Doctors first look for a “classic triad”: 1) the corpus ...
ATIC deficiency is a very rare, inherited metabolic disease. It happens when both copies of the ATIC gene do not work properly. The ATIC gene makes a single ...
5-amino-4-imidazole carboxamide ribosiduria is an ultra-rare, inherited metabolic disease that affects how the body makes purines, the building blocks of DNA, ...
AICA-ribosiduria is an ultra-rare genetic disease. It happens when a gene called ATIC does not work properly. ATIC makes a single protein that does two final ...
“Dysmorphism syndrome” is a broad medical term doctors use when a person has a pattern of body or facial features that look different from what is common in ...
Xia-Gibbs syndrome is a rare genetic condition that affects brain growth and body development. It happens when one copy of a gene called AHDC1 does not work ...
AHDC1-related intellectual disability is a genetic condition that affects how the brain develops and works. It is usually caused by a new (de novo) change in a ...
Granulopenia means your blood has fewer granulocytes than normal. Granulocytes are a group of white blood cells that fight germs. The main one is the ...
A granulocytopenic disorder means the number of granulocytes in the blood is lower than normal. Granulocytes are a group of white blood cells that fight germs. ...
Granulocytopenia means your blood has fewer granulocytes than normal. Granulocytes are a family of white blood cells that include neutrophils, eosinophils, and ...
Agranulocytosis is a very severe form of neutropenia. Neutrophils are a type of white blood cell that fight germs. In agranulocytosis, the number of ...
Otocephaly is a very rare birth defect that happens very early in pregnancy. The baby’s lower face does not form in the usual way. The lower jaw (mandible) may ...
Holoprosencephaly–agnathia is a very rare birth defect that affects both the brain and the face. In early pregnancy (about weeks 3–4), the front part of the ...
Dysgnathia complex with agnathia–holoprosencephaly is a very rare birth defect pattern that affects the face and the brain together. “Agnathia” means the lower ...
This is an ultra-rare and typically lethal association of defects—most babies do not survive long after birth. The literature is made up mostly of case reports ...
Agnathia–otocephaly complex is a very rare birth condition where the lower jaw (mandible) is missing or extremely small, and the ears may be fused toward the ...
NK-cell large granular lymphocytic leukemia is a cancer of mature natural killer (NK) white blood cells. These cells become clonal (they come from one abnormal ...
Large Granular Lymphocyte (LGL) Leukemia is a slow-growing blood cancer of mature immune cells called large granular lymphocytes. Most cases involve T-cells ...
Aggressive NK-cell lymphoma is a fast-growing blood cancer that starts from natural killer (NK) cells, a type of white blood cell your body uses to kill ...
NK-cell leukemia is a cancer where the body makes too many abnormal natural killer (NK) cells, a white blood cell that normally helps fight infections and ...
Aggressive NK-cell leukemia (ANKL) is a rare, fast-growing blood cancer that starts from natural killer (NK) cells, a type of white blood cell that normally ...
Peripheral neuropathy means the nerves outside the brain and spinal cord do not work properly. These nerves carry signals for feeling (touch, pain, ...
