Congenital Diarrhea 6
Congenital diarrhea 6, often shortened to DIAR6, is a very rare inherited bowel disease that usually starts at birth or very early in life. It is mainly a secretory diarrhea disorder, which means the ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Non-Syndromic Congenital Tufting Enteropathy
Non-syndromic congenital tufting enteropathy, often called isolated congenital tufting enteropathy, is a very rare inherited intestinal disease that usually starts in the newborn period with severe ...
Congenital Diarrhea 5 with Tufting Enteropathy
Congenital diarrhea 5 with tufting enteropathy is a very rare inherited disease of the small intestine. Doctors also call it congenital tufting enteropathy or intestinal epithelial dysplasia. In this ...
Congenital Defect of Folate Absorption
Congenital defect of folate absorption is a rare inherited disease in which the body cannot take in folate properly from the intestine and cannot move enough folate into the brain and spinal fluid. ...
Distal Arthrogryposis Type 9
Distal arthrogryposis type 9 is an old name for congenital contractural arachnodactyly, often shortened to CCA. Many experts now prefer the name congenital contractural arachnodactyly because this ...
Beals-Hecht Syndrome
Beals-Hecht syndrome, also called congenital contractural arachnodactyly (CCA), is a rare inherited connective tissue disorder. It is usually caused by a change in the FBN2 gene, which helps make ...
Congenital Contractural Arachnodactyly
Congenital contractural arachnodactyly is a rare genetic connective tissue disorder that mainly affects the bones, joints, muscles, ears, and body shape. “Congenital” means it is present from birth. ...
U12 Small Nuclear Mutation
U12 small nuclear mutation usually means a disease caused by a problem in the minor spliceosome, the small cell machine that removes U12-type introns from RNA before proteins are made. In humans, ...
Congenital Cerebellar Ataxia Due to RNU12 Mutation
Congenital cerebellar ataxia due to RNU12 mutation is a very rare inherited brain disorder. It starts very early in life, often in infancy, and mainly affects the cerebellum, which is the part of the ...
Congenital Cataract-Severe Neonatal Hepatopathy-Global Developmental Delay Syndrome
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome is an ultra-rare genetic disorder. In this condition, a baby is born with cataracts, which means the clear lens ...
Myopathy, Mitochondrial Progressive, with Congenital Cataract and Developmental Delay
Myopathy, mitochondrial progressive, with congenital cataract and developmental delay is a very rare inherited mitochondrial disease. It is now often grouped under GFER-related primary mitochondrial ...
Congenital Cataract-Progressive Muscular Hypotonia-Deafness-Developmental Delay Syndrome
Congenital Cataract-Progressive Muscular Hypotonia-Deafness-Developmental Delay Syndrome is an ultra-rare genetic mitochondrial myopathy. It is described by congenital cataract, progressive low ...
Congenital Cataract-Progressive Muscular Hypotonia-Hearing Loss-Developmental Delay Syndrome
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome is an ultra-rare genetic mitochondrial myopathy. In very simple words, it is a condition in which the ...
Basel-Vanagaite-Smirin-Yosef Syndrome
Basel-Vanagaite-Smirin-Yosef syndrome is a very rare inherited genetic disorder. It mainly affects brain development, learning, speech, growth, and several body systems. Most reported children have ...
Congenital Cataract-Microcephaly-Nevus Flammeus Simplex-Severe Intellectual Disability Syndrome
Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome is a very rare genetic disorder. It starts early in life. A baby may be born with cataracts in the ...
Congenital Cataract-Ichthyosis Syndrome
Congenital cataract-ichthyosis syndrome is an extremely rare inherited disorder in which a baby is born with cataract and ichthyosis together. A cataract means the clear lens of the eye is cloudy ...
Congenital Bronchobiliary Fistula
Congenital bronchobiliary fistula is a very rare birth defect. In this condition, an abnormal tube-like passage connects part of the breathing system, such as the trachea or a bronchus, to part of ...
Congenital Brain Dysgenesis Due to Glutamine Synthetase Deficiency
Congenital brain dysgenesis due to glutamine synthetase deficiency is an ultra-rare inherited neurometabolic disease. It is also called GLND, congenital glutamine deficiency, inherited glutamine ...
Serpentine-Like Syndrome
Serpentine-like syndrome is a very rare congenital malformation syndrome. “Congenital” means the baby is born with it. It is mainly described by a very short esophagus called brachyesophagus, a ...
Congenital Brachyesophagus-Intrathoracic Stomach-Vertebral Anomalies Syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome is an ultra-rare birth defect syndrome. It is also called a rare syndromic esophageal malformation. In this condition, ...
