" /> Thanatophoric dysplasia, type I - CISMeF





Preferred Label : Thanatophoric dysplasia, type I;

Symbol : TD1;

CISMeF acronym : TD; TD1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : TD; Thanatophoric dysplasia; Platyspondylic lethal skeletal dysplasia, san diego type; Thanatophoric dwarfism; Lethal short-limbed platyspondylic dwarfism, san diego type;

Description : Thanatophoric dysplasia is a severe short-limb dwarfism syndrome that is usually lethal in the perinatal period. Norman et al. (1992) classified cases of TD into subtypes based on the presence of curved as opposed to straight femurs; patients with straight, relatively long femurs always had associated severe cloverleaf skull and were designated TD type II (TD2), while TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1) (Langer et al., 1987).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0005);

Prefixed ID : #187600;

Détails


Vous pouvez consulter :


Nous contacter.
27/07/2025


[Accueil] [Haut de page]

© CHU de Rouen. Toute utilisation partielle ou totale de ce document doit mentionner la source.