Dyggve-Melchior-Clausen syndrome
| Classification according to ICD-10 | |
|---|---|
| Q87.1 | Congenital malformation syndromes that are predominantly associated with short stature |
| ICD-10 online (WHO version 2019) | |
The Dyggve-Melchior-Clausen syndrome ( DMC ) is a rare genetic disease , the autosomal - recessive inherited. The patients suffer from short stature and significant limitations in the brain area. The cause is a gene mutation in chromosome 18 . There is one DMC case for every one million births.
The syndrome initially goes unnoticed at birth, but growth decreases with advancing age until it comes to a complete standstill in the 5th year of life. In addition, a mild to severe mental retardation and disabilities in physique, under a shorter neck, a projected jumping breastbone , widened pubic symphysis , kyphoscoliosis , platyspondyly , shortened limbs , knock-knees or enlarged hands and feet can fall.
Smith-McCort syndrome is also closely related to DMC , in which approximately the same clinical picture occurs, but in which there is no mental impairment.