Clinical features in Schmid type of metaphyseal chondrodysplasia (MCDS) and cartilage–hair hypoplasia (CHH)
| 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 |