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 of the model: see poster presentation March 2019.

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…
  • 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…
  • 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…
  • 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…
  • 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…
  • 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…
  • 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,…
  • 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(…