Clinical and molecular characteristics of bone dysplasias
| Gene/protein family | Presenting at | Major features | Inherited | Gene |
|---|---|---|---|---|
| Fibroblast growth factor receptor 3 (FGFR3) | ||||
| Achondroplasia | Birth | Short limbs low nasal bridge prominent forehead | AD | FGFR3 |
| Hypochondroplasia | Infancy/puberty | Short limbs near normal face | AD | FGFR3 |
| Thanatophoric dysplasia | Birth (lethal) | Very short limbs low nasal bridge prominent forehead narrow chest short/trident hands craniosynostosis | AD | FGFR3 |
| Collagen | ||||
| Achondrogenesis II/ hypochondrogenesis | Stillbirth/ neonatal death | Severe micromelia short trunk/neck protuberant abdomen | AD | COL2A1 |
| Spondyloepiphyseal dysplasia congenita | Birth/infancy | Short trunk/lordosis myopia | AD | COL2A1 |
| Kniest syndrome | Birth | Thick/stiff joints flat facies prominent eyes, myopia deafness, cleft palate | AD | COL2A1 |
| Stickler dysplasia | Childhood/adult | Flat face severe myopia Pierre-Robin association | AD | COL2A1 COL11A2 |
| Strudwick dysplasia | Birth | Short limbs severe scoliosis pectus carinatum | AD | COL2A1 |
| Multiple epiphyseal dysplasia | Childhood/ adolescence | Short stature painful/stiff joints waddling gait | AD | COL9A2 COMP |
| Schmid metaphyseal dysplasia | Childhood | Short bowed limbs lumbar lordosis waddling gait | AD | COL10A1 |
| Cartilage oligomeric matrix protein (COMP) | ||||
| Multiple epiphyseal dysplasia (see under collagen) | ||||
| Pseudoachondroplasia | Birth/childhood | Short limbs waddling gait lax joints normal face | AD/AR | COMP |
| Diastrophic dysplasia sulphate transporter (DTDST) | ||||
| Achondrogenesis IB | Stillbirth/ neonatal death | Severe micromelia low nasal bridge short neck/thorax protuberant abdomen | AR | DTDST |
| Atelosteogenesis II | Neonatal death |
Severe micromelia short thorax bowed limbs/spine | AR | DTDST |
| Diastrophic dysplasia | Birth | Rhizomelic shortening swelling of ear hitchhiker thumbs narrow thorax | AR | DTDST |
| Parathyroid hormone, parathyroid hormone related peptide receptor (PTHrPR) | ||||
| Jansen metaphyseal dysplasia | Birth/infancy | Bowing long bones narrow thorax flexion joint deformity prominent eyes/micrognathia | AD | PTH-PTHrP |
AD, autosomal dominant; AR, autosomal recessive.