Zunich-Kaye Syndrome
Zunich-Kaye syndrome is a very rare genetic condition that affects many body systems at the same time. Doctors also call it CHIME syndrome. Children are born with the condition. It mainly affects the ...
Rx Autoimmune, Genetic and Rare Diseases (A – Z)
Congenital Disorder of Glycosylation Due to PIGL Deficiency
Congenital disorder of glycosylation due to PIGL deficiency (often called CHIME syndrome or PIGL-CDG) is an ultra-rare genetic disease. It is caused by harmful changes in the PIGL gene, which is ...
Coloboma, Congenital heart Disease, Ichthyosiform Dermatosis, Intellectual Disability, and Ear Anomalies Syndrome
Coloboma, congenital heart disease, ichthyosiform dermatosis, intellectual disability, and ear anomalies syndrome is usually called CHIME syndrome. It is a very rare genetic condition that is present ...
CHIME Syndrome
CHIME syndrome is a very rare genetic disease that affects many parts of the body, especially the eyes, heart, skin, brain, and ears. The name “CHIME” comes from the main features: Coloboma (eye ...
Childhood-Onset Progressive Contractures–Limb-Girdle Weakness–Muscle Dystrophy Syndrome
Childhood-onset progressive contractures–limb-girdle weakness–muscle dystrophy syndrome is a very rare genetic muscle disease. In this condition, a child slowly develops tight joints (contractures) ...
Childhood-Onset Nemaline Myopathy
Childhood-onset nemaline myopathy is a rare muscle disease that starts in later childhood, not at birth. It is also called the mild form of nemaline myopathy. In this type, weakness is usually ...
Childhood-Onset Motor and Cognitive Regression Syndrome with Extrapyramidal Movement Disorder
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder is a very rare brain disease that starts in young children. At first, many children develop almost ...
Childhood-Onset Benign Chorea with Striatal Involvement
Childhood-onset benign chorea with striatal involvement is a very rare genetic movement disorder that starts in childhood and mainly causes fast, jerky, dance-like movements called chorea. These ...
Childhood-Onset Autosomal Recessive Myopathy with External Ophthalmoplegia
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia is a very rare genetic muscle disease. It mainly affects the muscles that move the eyes and some of the muscles in the arms ...
Childhood Type Dermatomyositis
Childhood type dermatomyositis is usually called juvenile dermatomyositis (JDM). It is a rare disease where a child’s own defense system (immune system) attacks small blood vessels in the muscles and ...
Childhood Dermatomyositis
Childhood dermatomyositis (often called juvenile dermatomyositis, JDM) is a rare disease where a child’s immune system attacks tiny blood vessels in the skin and muscles. This attack causes muscle ...
Childhood Encephalopathy Due to Thiamine Pyrophosphokinase Deficiency
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency is a very rare genetic brain disease that starts in babies or young children. In this disease, a gene called TPK1 does not work ...
Heller Syndrome
Heller syndrome is an old name for a rare brain and development problem in children. Doctors now usually call it childhood disintegrative disorder (CDD), and in new books it is counted inside the ...
Dementia Infantilis
Dementia infantilis is an old name for a rare brain and development problem that is now called childhood disintegrative disorder (CDD) or Heller syndrome. It happens in children who first grow ...
Paediatric Astrocytoma of the Cerebellum
Paediatric astrocytoma of the cerebellum is a brain tumour that starts from special support cells in the brain called astrocytes, in the back part of the brain called the cerebellum. The cerebellum ...
Cerebellum Childhood Astrocytic Tumor
A cerebellum childhood astrocytic tumor is a brain tumor that grows from “astrocytes,” which are star-shaped support cells in the brain, inside the cerebellum at the back of the head. In children, ...
Childhood Cerebellar Astrocytic Neoplasm
Childhood cerebellar astrocytic neoplasm is a brain tumor that starts from special support cells in the brain called astrocytes. These cells are star-shaped and help feed and protect nerve cells. ...
Pediatric Carcinoid Tumor
A pediatric carcinoid tumor (also called a childhood gastrointestinal neuroendocrine tumor) is a rare type of cancer that starts in special hormone-making cells in the gut or sometimes in the lungs ...
Paediatric Brain Stem Glioma
Paediatric brain stem glioma is a tumour made from “glial cells” (support cells in the brain) that grows in the brain stem of a child. The brain stem is the part of the brain that joins the brain to ...
Paediatric Acute Lymphogenous Leukemia
Paediatric acute lymphogenous leukaemia (usually called childhood acute lymphoblastic leukaemia or ALL) is a blood cancer in children. In this disease, the bone marrow makes too many very young white ...
