Thanatophoric dysplasia, type I

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;

Details

Origin ID

187600;

UMLS CUI

C1868678;

Automatic exact mappings (from CISMeF team)
- AML Total Dose Table [NCIt concept]
- GDC Tumor Descriptor Terminology [NCIt concept]
- TLX1 neighbor [HGNC gene]
- Tetanus and Diphtheria Toxoids Adsorbed [NCIt concept]
- Tetanus and diphtheria toxoid adsorbed for adult use (product) [Inactive SNOMED CT concept]
- Thanatophoric dwarfism [PASCAL descriptor]
- Thanatophoric dwarfism [MedDRA Preferred Term]
- Thanatophoric dysplasia [ORDO Disease]
- Thanatophoric dysplasia (disorder) [SNOMED CT concept]
- Trial Disease Assessments Domain [NCIt concept]
- directed work [CISMeF resources Type]
- gastrointestinal tract [MeSH Descriptor]
- tetanus, diphtheria, and pertussis vaccines [MedlinePlus Topic]
- thanatophoric dysplasia [Radlex concept]
- thanatophoric dysplasia [DO Concept]
- thanatophoric dysplasia [MeSH Descriptor]
- thanatophoric dysplasia [MeSH concept]
- thanatophoric dysplasia [SNOMED Notion]
- thanatophoric dysplasia, type 2 [MeSH Supplementary Concept]
- trends [MeSH Qualifier]
- tyramine-deoxysorbitol [MeSH concept]
- tyramine-deoxysorbitol [MeSH Supplementary Concept]
Currated CISMeF NLP mapping
- Skeletal dysplasia, San Diego type [MeSH concept]
- Thanatophoric dysplasia type 1 [ORDO Disease]
- Thanatophoric dysplasia type I [ICD-11 More detail]
- Thanatophoric dysplasia, type 1 (disorder) [SNOMED CT concept]
- skeletal dysplasia, san diego type [MeSH Supplementary Concept]
- thanatophoric dysplasia, type I [MeSH concept]
- thanatophoric dysplasia, type I [MeSH Supplementary Concept]
DO Cross reference
- thanatophoric dysplasia [DO Concept]
False automatic mappings
- Chad [NCIt concept]
- TD Regimen [NCIt concept]
Genes related to phenotype
- Fibroblast growth factor receptor 3 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Bowing of the long bones [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]
- Frontal bossing [HPO term]
- Genu varus [HPO term]
- Global developmental delay [HPO term]
- Gray matter heterotopia [HPO term]
- Hydrocephalus [HPO term]
- Hypoplastic ilia [HPO term]
- Hypotonia [HPO term]
- Intellectual disability, profound [HPO term]
- Lethal micromelic dwarfism [HPO term]
- Lethal short-limbed short stature [HPO term]
- Macrocephaly [HPO term]
- Marked shortness and bowing of long bones [HPO term]
- Metaphyseal irregularity [HPO term]
- Narrow chest [HPO term]
- Neonatal death [HPO term]
- Polyhydramnios [HPO term]
- Respiratory insufficiency [HPO term]
- Severe platyspondyly [HPO term]
- Severe short stature [HPO term]
- Short and small iliac bones [HPO term]
- Short greater sciatic notch [HPO term]
- Short long bone [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 1 [ORDO Disease]
See also inter- (CISMeF)
- Thanatophoric Dysplasia [NCIt concept]
- Type 1 Thanatophoric Dysplasia [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Thanatophoric dysplasia, type 1 (disorder) [SNOMED CT concept]
- Type 1 Thanatophoric Dysplasia [NCIt concept]
- thanatophoric dysplasia, type I [MeSH Supplementary Concept]
- thanatophoric dysplasia, type I [MeSH concept]
Validated automatic mappings to NTBT
- Thanatophoric dysplasia [ICD-11 Sub-sub category]

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