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 "developmental delay" symptom

22q11.2 deletion syndrome

achondroplasia

alexander disease

alpha-thalassemia

aniridia

canavan disease

child syndrome

classical phenylketonuria

coats disease

cohen syndrome

congenital diaphragmatic hernia

congenital toxoplasmosis

cowden syndrome

gm1 gangliosidosis

harlequin ichthyosis

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

kabuki syndrome

kallmann syndrome

krabbe disease

lamellar ichthyosis

monosomy 21

neonatal adrenoleukodystrophy

phenylketonuria

primary hyperoxaluria type 1

proteus syndrome

pyruvate dehydrogenase deficiency

sneddon syndrome

triple a syndrome

wolf-hirschhorn syndrome

zellweger syndrome

This symptom has already been validated