Comprehensive health care and management may be life-saving
Knowing and understanding will improve the lives of people with rare conditions and their families. The multidisciplinary medical care and management of rare conditions are emphasized by RareCare. Each individual (family, healthcare providers, researchers) can contribute to better and safe healthcare.
Rare conditions are often composed of different more or less common diseases, which some rare conditions have in common. In RareCare you find a summary of medical guidelines for each rare condition as well as disease modules, applicable to one or more rare conditions. To support international data exchange each section can be affiliated with international classifications. Some specify the rare condition, OMIM and ORPHA, others are used in general practice such as the ICD, LOINC, ATC, and SNOMED. For an explanation see our model
Literature is found through a PubMed search.
- Alagille syndrome is a multisystem disorder possibly affecting : - liver: chronic cholestasis due to paucity of intrahepatic bile ducts, - heart: peripheral pulmonary artery stenosis and/or other heart defects, - vertebrae: minor vertebral segmentation anomalies, - face: characteristic facies…
- Alport syndrome is a hereditary renal disease, glomerulonephritis, resulting in renal failure. In addition, there is often (sensorineural) deafness and a congenital anomaly of the eye, a lenticonus. Alport syndrome is a genetic disease of collagen a3a4a5(IV). The collagen a3a4a5(IV) is a major…
- The name of this condition comprises GATAD2B ‘syndrome’ or GAND as well as ‘severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome’. The cause is a loss of function of the GATA2B gene by a chromosomal (1q21.3) microdeletion resulting in the absence of the gene…
- Autosomal dominant mental retardation-50 is associated with NAA15 gene mutations in large cohorts of DNA samples of people with mild to severe developmental delay and/or intellectual disability, including more specific delayed speech and language. The phenotype seems to be variable. All…
- Bardet–Biedl syndrome (BBS) consists of eye disease(rod-cone dystrophy), skeletal abnormality (polydactyly, brachydactyly, and syndactyly), obesity, reduced intelligence, renal dysfunction, and male genital anomaly (hypogonadism). Some features manifest at in the first decade of life with…
- The syndrome first described by Beckwith and Wiedemann is characterized by of exomphalos, macroglossia, and gigantism. Beckwith Wiedemann Syndrome (BWS) is now considered as overgrowth disorder involving an elevated risk of tumour development. The clinical presentation is highly variable; some…
- CDKL5 deficiency is characterized by early-onset seizures, often presenting as infantile spasms and usually occurring within the first 3 months of life, global developmental delay, severely impaired gross motor function and cortical visual impairment. CDKL5 deficiency is caused by dominantly acting…
- Down syndrome (DS) is the most common chromosomal abnormality. The syndrome named after L. Down, who described the associated clinical features in 1866. End of the 1950’s when human chromosome studies became available Down’s syndrome proved to be caused by 3 instead of the normal 2 copies of…
- Chromosome Ring 20 syndrome is a rare chromosomal disorder characterized by medically hard to control epilepsy, nocturnal subtle seizures, behavioural problems and mild mental impairment. Unlike other chromosomal aberrations, typical appearances are rarely reported. Most cases there are no family…
- The most common features of cleidocranial dysplasia/ dysostosis are among others: patency of the anterior fontanelle, an inverted pear-shaped skull, hypertelorism (wide-spaced eyes), general backward placement of the middle of the face, a lower jaw prognathism,…
- Coffin Lowry syndrome is a rare genetic disorder characterized by mental retardation; abnormalities of the head and facial (craniofacial) area; large, soft hands with short, thin (tapered) fingers; short stature and/or various skeletal abnormalities. Characteristic facial features may include…
- Duchenne muscular dystrophy is an inherited, X-linked disease that affects about 1 in 3500 - 6000 males. DMD occurs as a result of a change in the dystrophin gene located at the X chromosome (locus Xp21.2). Changes in the gene cause an absence of or defect in the protein dystrophin. Boys have one X…
- Fibrodysplasia Ossificans Progressiva is a rare genetic disorder in which connective tissue and muscle tissue are gradually ossified. Extra-skeletal bone formation causes progressive loss of mobility. The process starts in early childhood and often forms a pattern starting with the neck and…
- Neuroblastoma is an embryonal cancer of the autonomic nervous system; the most common cancer diagnosed during the first year of life. Although neuroblastoma accounts for disproportionately high morbidity and mortality among childhood cancers, it has one of the highest rates of spontaneous and…
- The group of disorders known as the neuronal ceroid lipofuscinoses have common features including a variable age of onset, motor and mental decline, epilepsy, and visual loss. Common symptoms together with the presence of abnormal lysosomal storage in neurons and other cells define the condition. …
- In the total spectrum of OAVS are many syndromes. One of them is Goldenhar Syndrome (GHS). Goldenhar syndrome is a rare congenital defect in the craniofacial spectrum and is characterized by incomplete development in the formation of one side of the face and body. Mainly affected are Ear, Eye and…
- Pantothenate kinase-associated neurodegeneration (PKAN, formerly Hallervorden–Spatz syndrome), is a disorder characterized by iron accumulation in the brain. The estimated incidence is about 1–3 per million. The cause is a mutation in the PANK2 gene. In fact, PKAN is one of the most common…
- Genetic atypical Parkinson's disease (PD) describes forms of PD that resemble the common PD, but feature prominent atypical clinical signs and symptoms that can be sub-grouped into atypical monogenic forms caused by mutations in 1) the ATP13A2, DNAJC6, FBXO7, SYNJ1, VPS13C, and DCTN genes; 2)…
- Phenylketonuria is an autosomal recessive inborn error of phenylalanine metabolism caused by variants in the gene encoding phenylalanine hydroxylase (PAH). PAH deficiency leads to accumulation of phenylalanine in the blood and brain. A dangerous buildup of phenylalanine can develop when a person…
- Sarcoidosis is a disease of unknown cause characterized by the formation of immune granulomas. Many organs may become affected. The proceeds insidiously. The diagnosis is sometimes made fortuitously upon routine chest radiography or that done for other reasons. The age of onset is typically…
- Shwachman-Diamond syndrome is complex condition which affects different body functions. The pancreas produces less enzymes for the uptake of food. The bone marrow malfunctions and does not make some or all types of white blood cells. A shortage of neutrophils, the most common type of white…
- Sickle cell disease (SCD) is a red blood cell disease, a complex inherited disorder with multisystem manifestations that requires specialized comprehensive care to achieve an optimal outcome. Appropriate treatment requires the active involvement of health care professionals with expertise in the…
- Spinal Muscular Atrophies (SMA) include a group of neuromuscular disorders characterized by degeneration of alpha motor neurons in the spinal cord with progressive muscle atrophy, weakness and paralysis. The phenotypes are grouped on the basis of the classical age of the onset and maximum motor…
- The thalassemias are a group of genetically (inherited) blood disorders that share in common one feature; the defective production of hemoglobin which is the protein that enables red blood cells to carry and deliver oxygen. There are many different mechanisms of defective hemoglobin synthesis and,…
- Tietze’s syndrome is a benign, self-limiting arthropathy most often involving the sternocostal, sternoclavicular, or costochondral joints. The characteristic symptoms are tenderness, pain and oedema involving one of the affected joints on one side. Diagnosis of Tietze’s syndrome is based on…
- Treacher Collins Syndrome is a genetic disorder characterized by hypoplasia of facial bones (mandible, maxilla and cheek bone), antimongoloid slant of palpebral fissures, coloboma of the lower lid, bilateral anomalies of the auricle and hearing loss. These congenital disorders represent a…
- Turner syndrome is a disorder that only affects females, about 1 in every 2,000 baby girls. The cause is an abnormal number of the chromosomes that determine our sex, the X and Y chromosome. A girl has two X chromosome. Girls born with Turner syndrome miss one X chromosome or part of it. The…
- X-linked hypophosphatemia (XLH) is known as the most common hereditary metabolic rickets with a prevalence of 1:20,000- 60,000. Manifestations are bone deformities (particularly bowing of the lower extremities), bone pain, reduced growth, low serum phosphate with inappropriately normal serum 1,25(…
