Comprehensive health care and management may be life-saving

The multidisciplinary medical care and management of each rare condition are emphasized by RareCare. Each individual can contribute to better and safer healthcare. Knowing and understanding will improve the lives of people with rare conditions and their families.

Rare conditions are often composed of different more or less common diseases. The most important health issues are gathered to illustrate the importance of multidisciplinary health care including specialty care as well as the surrounding community organizations, policies, and other resources impacting health.

In RareCare you find a description of each rare condition, a specific medical guideline for each rare condition as well as disease modules, applicable to one or more rare conditions. All are designed as the ingredients of in an interoperable personal health record.

A personal health record that will provide each individual to understand and manage a rare condition.

 

 

 

  • Alport syndrome is a hereditary 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) hetero-trimer 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…
  • 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…
  • 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…
  • 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…
  • X-linked hypophosphatemia (XLH) was first described as Vitamin D-resistant rickets. Now it is known as the most common hereditary metabolic rickets with a prevalence of 1:20,000. The genetic mutation is of the phosphate-regulating gene PHEX which results in reduced phosphate reabsorption by the…