COACH Syndrome
COACH syndrome is a very rare genetic disease that mainly affects the brain, liver, eyes, and sometimes the kidneys. It is an autosomal recessive condition, which means a child gets one faulty gene ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Spinal Anomaly Syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-spinal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth condition where a baby is born with too much ...
Congenital Lipomatous Overgrowth-Vascular Malformation-Epidermal Nevi-Skeletal Anomaly Syndrome
Congenital lipomatous overgrowth-vascular malformation-epidermal nevi-skeletal anomaly syndrome is usually called CLOVES syndrome. It is a very rare birth problem. Babies are born with too much soft ...
CLOVES Syndrome
CLOVES syndrome is a very rare disease where some parts of the body grow too much and in an uneven way. It usually starts before birth, so the baby is born with these changes. The name “CLOVES” is an ...
Omphalocele–Cloacal Exstrophy–Imperforate Anus–Spinal Defect Syndrome
Omphalocele–cloacal exstrophy–imperforate anus–spinal defect syndrome is usually called OEIS complex. It is a very rare birth condition where a baby is born with four main problems together: a hole ...
Wallis-Zieff-Goldblatt Syndrome
Wallis-Zieff-Goldblatt syndrome is an extremely rare genetic bone growth problem. It mainly affects the bones near the shoulders and the upper arms, and also the collarbones (clavicles). Children and ...
McPherson-Clemens Syndrome
McPherson-Clemens syndrome (also called cleft lip/palate–intestinal malrotation–cardiopathy syndrome) is an extremely rare genetic disorder that affects many parts of a baby’s body from birth. It is ...
Zlotogora-Zilberman-Tenenbaum Syndrome
Zlotogora-Zilberman-Tenenbaum syndrome is an extremely rare genetic condition in which the outer layer of the body (skin, hair, nails, teeth, some glands) and parts of the face and hands/feet do not ...
Zlotogora-Ogur Syndrome
Zlotogora-Ogur syndrome is a very rare genetic disease that mainly affects body parts made from the outer layer of the embryo (the ectoderm), such as skin, hair, nails, and teeth. Children with this ...
Cleft Lip/Palate-Ectodermal Dysplasia Syndrome
Cleft lip/palate-ectodermal dysplasia syndrome is a very rare genetic condition. In this syndrome, a baby is born with a split in the upper lip and/or the roof of the mouth (cleft lip and cleft ...
Lowry-Yong Syndrome
Lowry-Yong syndrome is a very rare genetic condition that is present from birth and mainly affects the face, hearing system, lower spine, and some bones of the hips and long limbs. Children with this ...
Ausems Wittebol-Post Hennekam Syndrome
Ausems Wittebol-Post Hennekam syndrome is an extremely rare genetic condition where a child is born with a cleft lip and slowly worsening disease of the light-sensing layer at the back of the eye ...
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 ...
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 ...
