Thanatophoric dysplasia type 1
Synonyms: TD1 · Thanatophoric dwarfism type 1
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A form of thanatophoric dysplasia characterized by prenatal onset of growth deficiency of the limbs of less than 5%, bowed femurs (like a telephone receiver), shortened ribs, and platyspondyly. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, large anterior fontanel, frontal bossing, midface hypoplasia, proptosis, and low nasal bridge. Neonates usually die shortly after birth due to respiratory insufficiency and/or spinal cord/brain stem compression.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Thanatophoric dysplasia type 1 | TD1 · Thanatophoric dwarfism type 1 |
| fr | Dysplasie thanatophore type 1 | Nanisme thanatophore type 1 · TD1 |
| de | Thanatophore Dysplasie Typ 1 | Kleinwuchs, thanatophorer, Typ 1 · TD1 |
| es | Displasia tanatofórica tipo 1 | Enanismo tanatofórico tipo 1 · TD1 |
| it | Displasia tanatofora, tipo 1 | Nanismo tanatoforo, tipo 1 · TD1 |
| nl | Thanatofore dysplasie type 1 | TD1 · Thanatofore dwerggroei type 1 |
| pt | Displasia tanatofórica tipo 1 | |
| pl | Dysplazja tanatoforyczna typu 1 | Karłowatość tanatoforyczna typu 1 · TD1 |
| cs | Thanatoforická dysplázie, typ I | TDI · Tanatoforický dwarfismus, typ I |
| uk | Танатофорна дисплазія, тип 1 | TD1 · Танатофорна карликовість типу 1 |
| zh | 致死性骨发育不全1型 | 致死性侏儒症1型 |
| tr | Tanatoforik displazi tip 1 | TD1 · Tanatoforik cücelik tip 1 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 187600 | E | validated | |
| ICD-10 | Q77.1 | NTBT | attributed | validated |
| ICD-11 | LD24.02 | NTBT | index | validated |
| MONDO | 0008546 | E | validated | |
| MeSH | C566844 | E | validated | |
| UMLS | C1868678 | E | validated | |
| GARD | 9295 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (1):
- ORPHA:2655Thanatophoric dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FGFR3 | Disease-causing germline mutation(s) in | Assessed | HGNC:3690 | ENSG00000068078 | 134934 | 4p16.3 | fibroblast growth factor receptor 3 | 20301540[PMID] |
Prevalence and incidence
1 record| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only | Not yet validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
HPO phenotypes
40 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0100781 | Abnormality of the sacroiliac joint | |
| HP:0006487 | Bowing of the long bones | |
| HP:0001156 | Brachydactyly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0002980 | Femoral bowing | |
| HP:0012368 | Flat face | |
| HP:0000946 | Hypoplastic ilia | |
| HP:0001252 | Hypotonia | |
| HP:0002187 | Intellectual disability, profound | |
| HP:0008909 | Lethal short-limbed short stature | |
| HP:0000256 | Macrocephaly | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0000926 | Platyspondyly | |
| HP:0001582 | Redundant skin | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0003097 | Short femur | |
| HP:0003185 | Short greater sciatic notch | |
| HP:0002652 | Skeletal dysplasia | |
| HP:0001171 | Split hand | |
| Frequent (79-30%) | ||
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0007392 | Excessive wrinkled skin | |
| HP:0002007 | Frontal bossing | |
| HP:0000365 | Hearing impairment | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0002808 | Kyphosis | |
| HP:0001561 | Polyhydramnios | |
| HP:0000520 | Proptosis | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000260 | Wide anterior fontanel | |
| Occasional (29-5%) | ||
| HP:0000077 | Abnormality of the kidney | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0001631 | Atrial septal defect | |
| HP:0002676 | Cloverleaf skull | |
| HP:0002282 | Gray matter heterotopia | |
| HP:0000238 | Hydrocephalus | |
| HP:0001387 | Joint stiffness | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001250 | Seizure | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1860
- This record as JSON: /data/d/1860.json