FGFR3-related condition: a skeletal dysplasia with similarities to thanatophoric dysplasia and SADDAN due to Lys650Met.

[achondroplasia]

Mutations in the fibroblast growth factor receptor 3 (FGFR 3 ) gene account for six related skeletal dysplasia conditions : achondroplasia , hypochondroplasia , thanatophoric dysplasia types 1 and 2 , SADDAN (severe achondroplasia with developmental delay and acanthosis nigricans ), and platyspondylic lethal skeletal dysplasia , San Diego type . This group of disorders has very characteristic clinical and radiologic features , which distinguish them from other skeletal dysplasias . They display a spectrum of severity in the skeletal findings , ranging from relatively mild hypochondroplasia to lethal thanatophoric dysplasia . We report a patient who has the missense FGFR 3 mutation , Lys 650 M et , previously reported in association only with SADDAN , who exhibits some findings similar to both thanatophoric dysplasia (types 1 and 2 ) in addition to those findings characteristic of SADDAN .

Diseases
Validation

Diseases presenting "skeletal dysplasia" symptom

achondroplasia

aromatase deficiency

cohen syndrome

dentinogenesis imperfecta

gm1 gangliosidosis

oligodontia

This symptom has already been validated