X-linked Angelman-Like Syndrome
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 a gene called SLC9A6 on the X ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
SLC9A6-Related Syndromic Mental Retardation
SLC9A6-related syndromic mental retardation is a rare genetic brain disorder that mainly affects boys and leads to severe intellectual disability, problems with movement, seizures, small head size, ...
Intellectual Disability Microcephaly Epilepsy, and Ataxia Syndrome
Intellectual disability, microcephaly, epilepsy, and ataxia syndrome is the long, descriptive name for a very rare brain development condition that most doctors call Christianson syndrome. It mainly ...
X-linked Syndromic Intellectual Developmental Disorder
X-linked syndromic intellectual developmental disorder is not just one disease. It is a big group of rare genetic conditions where a child has intellectual disability plus other body or brain ...
Christianson Syndrome
Christianson syndrome is a rare genetic condition that mainly affects the brain and nervous system. It usually shows up in the first year of life. Babies and children have slow development, severe ...
Xq21 Microdeletion Syndrome
Xq21 microdeletion syndrome happens when a very small piece is missing from the long arm of the X chromosome, in a region called “Xq21.” This missing piece contains several important genes that help ...
Xq21 Deletion Syndrome
Xq21 deletion syndrome is a very rare genetic condition where a small missing piece (deletion) on the long arm of the X chromosome, in a region called Xq21, removes several important genes at the ...
Ayazi Syndrome
Ayazi syndrome is a very rare genetic disease. It happens when a small piece is missing (deleted) from a special part of the X chromosome called Xq21. This missing piece includes at least two ...
Choroideremia-Deafness-Obesity Syndrome
Choroideremia-deafness-obesity syndrome is a very rare genetic disease that mainly affects boys and men. It is caused by a small missing piece of the X chromosome in a region called Xq21. This ...
Moloney Syndrome
Moloney syndrome is a very rare genetic condition. It mainly affects the eyes (the choroid and retina), the hair, and the nails. It belongs to a group of conditions called ectodermal dysplasias, ...
Pseudohermaphroditism
Pseudohermaphroditism is an old medical word for a group of conditions where a person’s chromosomes and internal sex organs are clearly male or clearly female, but the outside genitals look different ...
Nivelon-Nivelon-Mabille Syndrome (NNMS)
Nivelon-Nivelon-Mabille syndrome (NNMS) is a very rare genetic condition that affects bone growth, brain development, and the way sex organs develop in some babies who have a 46,XY (typically male) ...
Toriello-Higgins-Miller Syndrome
Toriello-Higgins-Miller syndrome is a very rare genetic disease that mainly affects the bones, face, hands and feet, and sometimes the eyes, brain, and heart. Doctors also call it a “non-rhizomelic ...
Happle Syndrome
Happle syndrome is another name for Conradi–Hünermann–Happle syndrome, also called X-linked dominant chondrodysplasia punctata type 2 (CDPX2). It is a very rare genetic disease that affects bones, ...
Conradi-Hünermann-Happle Syndrome
Conradi-Hünermann-Happle syndrome is a very rare genetic disease that mainly affects bones, skin, hair, and eyes. It is a type of bone growth problem called “chondrodysplasia punctata,” where tiny ...
Cholangiocarcinoma (Bile Duct Cancer)
Cholangiocarcinoma is a cancer that starts in the bile ducts. Bile ducts are thin tubes that carry a yellow-green fluid called bile from the liver to the gallbladder and small intestine. Bile helps ...
Choanal Atresia–Hearing Loss–Cardiac Defects–Craniofacial Dysmorphism Syndrome
Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is usually called Burn-McKeown syndrome. It is a very rare birth condition (congenital syndrome). Children with this ...
Choanal Atresia–Hearing Loss–Cardiac Defects–Craniofacial Dysmorphism Syndrome
Choanal atresia–hearing loss–cardiac defects–craniofacial dysmorphism syndrome is a very rare genetic condition that starts before birth. It mainly affects the nose (back of the nasal passages), the ...
Radial Ray Hypoplasia-Choanal Atresia Syndrome
Radial ray hypoplasia–choanal atresia syndrome (also called Goldblatt-Viljoen syndrome) is an extremely rare genetic condition. In this syndrome a child is born with under-development of the radial ...
Goldblatt-Viljoen Syndrome
Goldblatt-Viljoen syndrome is a very rare birth condition where a baby is born with three main problems together: the bones on the thumb side of the forearm are under-developed (radial ray ...
