Table 2 The number of mutations and types in FGFR3 in HGMD database

Hypochondroplasia

28

Thanatophoric dysplasia

15

Achondroplasia

11

Craniosynostosis

4

Lacrimo-auriculo-dento-digital syndrome

2

Short stature ?

2

Skeletal dysplasia

2

Acanthosis nigricans

1

Achondroplasia ?

1

Achondroplasia with developmental delay & acanthosis nigricans

1

Achondroplasia with severe Platyspondyly

1

Camptodactyly, tall stature and hearing loss syndrome

1

Cleft lip and palate ?

1

Crouzon syndrome with acanthosis nigricans

1

Prostate cancer

1

Prostate cancer and additional primary cancers

1

Seborrhoeic keratosis ?

1

Short stature

1

Tall stature, lateral tibial deviation, scoliosis, hearing impairment, camptodactyly and arachnodactyly

1

Thanatophoric dysplasia, type 2

1

Wilms tumour

1