Thanatophoric dysplasia, type II

Preferred Label : Thanatophoric dysplasia, type II;

Symbol : TD2;

CISMeF acronym : TD2;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Thanatophoric dysplasia with kleeblattschaedel; Thanatophoric dysplasia with straight femurs and cloverleaf skull; Cloverleaf skull with thanatophoric dwarfism;

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), whereas TD cases with curved, short femurs with or without cloverleaf skull were designated TD type I (TD1; 187600) (Langer et al., 1987).;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the fibroblast growth factor receptor-3 gene (FGFR3, 134934.0004);

Prefixed ID : #187601;

Details

Origin ID

187601;

UMLS CUI

C1300257;

Currated CISMeF NLP mapping
- Thanatophoric dysplasia type 2 [ORDO Disease]
- Thanatophoric dysplasia type II [ICD-11 More detail]
- Thanatophoric dysplasia, type 2 [MeSH concept]
- Thanatophoric dysplasia, type 2 (disorder) [SNOMED CT concept]
- Type 2 Thanatophoric Dysplasia [NCIt concept]
- cloverleaf skull micromelia thoracic dysplasia [MeSH Supplementary Concept]
- thanatophoric dysplasia, type 2 [MeSH Supplementary Concept]
DO Cross reference
- thanatophoric dysplasia [DO Concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Brachydactyly [HPO term]
- Cloverleaf skull [HPO term]
- Death in majority of infants soon after birth [HPO term]
- Decreased fetal movement [HPO term]
- Dwarfism [HPO term]
- Flared irregular metaphyses [HPO term]
- Flared metaphysis [HPO term]
- Hypoplastic ilia [HPO term]
- Lethal micromelic dwarfism [HPO term]
- Lethal short-limbed short stature [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow chest [HPO term]
- Neonatal death [HPO term]
- Platyspondyly [HPO term]
- Polyhydramnios [HPO term]
- Respiratory insufficiency [HPO term]
- Severe cloverleaf skull [HPO term]
- Short and small iliac bones [HPO term]
- Short greater sciatic notch [HPO term]
- Short ribs [HPO term]
- Small abnormally formed scapulae [HPO term]
- Small face [HPO term]
- Small foramen magnum [HPO term]
- Wide-cupped costochondral junctions [HPO term]
ORDO concept(s)
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia type 2 [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dysplasia type II [ICD-11 More detail]
- Thanatophoric dysplasia, type 2 [MeSH concept]
- Thanatophoric dysplasia, type 2 (disorder) [SNOMED CT concept]
- Type 2 Thanatophoric Dysplasia [NCIt concept]
- thanatophoric dysplasia, type 2 [MeSH Supplementary Concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients