[Speak up for people with rare diseases: ACHSE : ACHSE, Rare Diseases Germany, and its network]. / Den Menschen mit seltenen Erkrankungen eine Stimme geben: ACHSE e. V. : Allianz Chronischer Seltener Erkrankungen (ACHSE) e. V. und ihr Netzwerk.

Approximately 4 million children and adults in Germany suffer from a chronic rare disease. In Europe a disease is considered "rare" when it afflicts no more than 5 from 10,000 inhabitants. In some rare diseases only a handful of people are affected in Germany but in others there are thousands. Rare diseases are mostly severe, chronic and progressive diseases, affecting one or more organs and many of them are lethal. ACHSE, Rare Diseases Germany, is the alliance of and for people living with rare diseases. Since 2004 more than 120 patient organizations representing one or more rare diseases have joined under the umbrella of ACHSE. ACHSE counsels those affected and their families as well as physicians and therapists seeking advice. ACHSE is a network and addresses and represents the interests and needs of people living with rare diseases in Germany in politics and society, in medicine, research and science. Together with the Federal Ministry for Education and Research and the ACHSE, the Federal Ministry for Health founded the National Coalition for People with Rare Diseases (NAMSE) in 2010 in order to work out the first national action plan for people with rare diseases. All stakeholders of the German healthcare system took part in this national coalition. The action plan encompasses 52 suggestions for concrete actions to tackle the most urgent problems of the patients and their families. It was completed in 2013 and approved by the German Government. Since then the ACHSE has been and still is the driving force to ensure that the implementation of all measures is being done successfully.

Mutations involving the transcription factor CBFA1 cause cleidocranial dysplasia.

Cleidocranial dysplasia (CCD) is an autosomal-dominant condition characterized by hypoplasia/aplasia of clavicles, patent fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth. In some families, the phenotype segregates with deletions resulting in heterozygous loss of CBFA1, a member of the runt family of transcription factors. In other families, insertion, deletion, and missense mutations lead to translational stop codons in the DNA binding domain or in the C-terminal transactivating region. In-frame expansion of a polyalanine stretch segregates in an affected family with brachydactyly and minor clinical findings of CCD. We conclude that CBFA1 mutations cause CCD and that heterozygous loss of function is sufficient to produce the disorder.