| A | B |
|---|
| Synpolydactyly | HOXD-13 |
| Waardenburg syndrome | PAX-3 |
| Greig syndrome | GL13 |
| Campomelic dysplasia | SOX9 |
| Oligodontia | PAX9 |
| Nail-patella syndrome | LMX1B |
| Holt-Oram syndrome | TBX5 |
| Ulnar-mammary syndrome | TBX3 |
| Cleidocranial dysplasia | CBFA1 |
| Osteogenesis imperfecta types 1-4 | Type 1 collagen |
| Achondrogenesis II | Type 2 collagen |
| Stickler syndrome | Type 2 collagen |
| Multiple epiphyseal dysplasia | Type 9 collagen |
| Schmid metaphyseal chondrodysplasia | Type 10 collagen |
| Brachydactyly type C | Shortened metacarpals and phalanges |
| Jansen metaphyseal chondroplasia | Short bowed limbs, clinodactyly, facial abnormalities, hypercalcemia, hypophosphatemia |
| Achondroplasia | Short stature, rhizomelic shortening of limbs, frontal bossing, midface deficiency |
| Hypochondroplasia | Disproportionate short stature, micromelia, relative macrocephaly |
| Thanatophoric dwarfism | Severe limb shortening and bowing, frontal bossing, depressed nasal bridge |
| Crouzon syndrome | Craniosynostosis |
| Synpolydactyly | Extra digit with fusion |
| Waardenburg syndrome | Hearing loss, abnormal pigmentation, craniofacial abnormalities |
| Greig syndrome | Synpolydactyly, craniofacial abnormalities |
| Campomelic dysplasia | Sex reversal, abnormal skeletal development |
| Oligodontia | Congenital absence of teeth |
| Nail-patella syndrome | Hypoplastic nails, hypoplastic or aplastic patellae, dislocated radial head, progressive nephropathy |
| Holt-Oram syndrome | Congenital abnormalities, forelimb anomalies |
| Ulnar-mammary syndrome | Hypoplasia or absent ulna, 3rd-5th digits, breast, and teeth, delayed puberty |
| Cleidocranial dysplasia | Abnormal clavicles, wormian bones, supernumerary teeth |
| Osteogenesis imperfecta types 1-4 | Bone fragility, hearing loss, blue sclerae |
| Achondrogenesis II | Short trunk, severely shortened extremities, relatively enlarged cranium, flattened face |
| Hypochondrogenesis | Short trunk, shortened extremities, relatively enlarged cranium, flattened face |
| Stickler syndrome | Myopia, retinal detachment, hearing loss, flattened face, premature osteoarthritis |
| Multiple epiphyseal dysplasia | Short or normal stature, small epiphyses, early onset osteoarthritis |
| Schmid metaphyseal chondrodysplasia | Mild short stature, bowing of lower extremities, coxa vara, metaphyseal flaring |
| Brachydactyly type C | CDMP1- Signaling molecule |
| Jansen metaphyseal chondroplasia | PTHrp receptor |
| Achondroplasia | FGFR3- Receptor |
| Hypochondroplasia | FGFR3- Receptor |
| Thanatophoric dwarfism | FGFR3- Receptor |
| Crouzon syndrome | FGFR2 |
