Catalog
Dyskeratosis congenita
No MMS code
Link to WHO Definition
Dyskeratosis congenita – http://id.who.int/icd/entity/1531033936
Dyskeratosis congenita (DC) is a multisystem disorder characterised by the mucocutaneous triad of abnormal skin pigmentation, nail dystrophy and mucosal leucoplakia. A variety of other abnormalities have been reported (dental, gastrointestinal, genitourinary, hair greying/loss, immunological, neurological, ophthalmic, pulmonary and skeletal). Bone marrow (BM) failure is the principal cause of early mortality with an additional predisposition to malignancy and fatal pulmonary complications.
Parents
- LD27.0 Ectodermal dysplasia syndromes
- DA02.0 Genetic or developmental disorders involving lips or oral mucosa
- EC10 Genetic syndromes with poikiloderma
- LD27.4 Genetic syndromes affecting nails
- DNA instability syndromes affecting the skin
- 4A01.3 Other well-defined immunodeficiency syndromes due to defects in adaptive immunity
- Inherited cancer-predisposing syndromes
- 3A70.0 Congenital aplastic anaemia
- Syndromic conditions with disorders of intellectual development as a relevant clinical feature