Feature | MCDS | CHH |
---|---|---|
++, always present; +, often present; −, absent. | ||
Skeletal findings | ||
Growth failure | ||
Neonatal onset | – | ++ |
Progressive | ++ | ++ |
Disproportionate (short limbs) | ++ | ++ |
Adult height | 130–145 cm | 110–140 cm |
Bow legs | ++ | + |
Increased joint laxity | – | + |
Extra-skeletal findings | ||
Sparse hair | – | + |
Immunodeficiency | – | + |
Anaemia and macrocytosis | – | + |
Increased risk of malignancy | – | + |
Hirchsprung disease | – | + |
Genetics | ||
Mode of inheritance | Autosomal dominant | Autosomal recessive |
Responsible gene | COL10A1 | RMRP |