Thanatophoric dysplasia type 2
Synonyms: Cloverleaf skull-micromelic bone dysplasia syndrome · TD2 · Thanatophoric dwarfism type 2 · Thanatophoric dwarfism-cloverleaf skull syndrome
- Type
- Clinical subtype
- Group
- Subtype of disorder
- Inheritance
- Autosomal dominant, Not applicable
- Age of onset
- Infancy, Neonatal
- Status
- active
A form of thanatophoric dysplasia characterized by prenatal onset of micromelia with straight femurs, platyspondyly, narrow thorax, and cloverleaf skull with increased risk of hydrocephalus and neurological complications. Fetal MRI can identify temporal lobe abnormalities and a narrow foramen magnum. Postnatally, distinctive facial features include macrocephaly, frontal bossing, midface hypoplasia, low nasal bridge, large anterior fontanel, and proptosis. 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 2 | Cloverleaf skull-micromelic bone dysplasia syndrome · TD2 · Thanatophoric dwarfism type 2 · Thanatophoric dwarfism-cloverleaf skull syndrome |
| fr | Dysplasie thanatophore type 2 | Syndrome de nanisme thanatophore-crâne en trèfle · TD2 · Nanisme thanatophore type 2 · Syndrome de crâne en trèfle-dysplasie osseuse micromélique |
| de | Thanatophore Dysplasie Typ 2 | Kleeblattschädel - mikromele Knochendysplasie · Kleinwuchs, thanatophorer - Kleeblattschädel · Kleinwuchs, thanatophorer, Typ 2 · TD2 · Thanatophorer Kleinwuchs - Kleeblattschädel |
| es | Displasia tanatofórica tipo 2 | Enanismo tanatofórico tipo 2 · Síndrome de cráneo en trébol-displasia ósea micromélica · Síndrome de enanismo tanatofórico-cráneo en hoja de trébol · TD2 |
| it | Displasia tanatofora, tipo 2 | Cranio a trifoglio - displasia ossea micromelica · Nanismo tanatoforo - cranio a trifoglio · Nanismo tanatoforo, tipo 2 · TD2 |
| nl | Thanatofore dysplasie type 2 | Klaverbladschedel - micromelische botdysplasie-syndroom · TD2 · Thanatofore dwerggroei - klaverbladschedel-syndroom · Thanatofore dwerggroei type 2 |
| pt | Displasia tanatofórica tipo 2 | |
| pl | Dysplazja tanatoforyczna typu 2 | Czaszka w kształcie trójlistnej koniczyny - dysplazja mikromeliczna kości · Karłowatość tanatoforyczna - czaszka w kształcie trójlistnej koniczyny · Karłowatość tanatoforyczna typu 2 · TD2 |
| cs | Thanatoforická dysplázie, typ 2 | Syndrom zahrnující lebku tvaru jetelového listu a mikromelickou kostní dysplázii · TD2 · Thanatoforické trpaslictví, typ 2 · Syndrom zahrnující thanatoforické trpaslictví a lebku tvaru jetelového listu |
| uk | Танатофорна дисплазія, тип 2 | Синдром мікромелічної дисплазії кісток черепа з листям конюшини · TD2 · Танатофорна карликовість типу 2 · Синдром танатофорної карликовості - черепа конюшиновий листок |
| zh | 致死性侏儒症2型 | 三叶草状颅-微骨发育不良综合征 |
| tr | Tanatoforik displazi tip 2 | TD2 · Tanatoforik cücelik tip 2 · Tanatoforik cücelik-yonca yaprağı kafatası sendromu · Yonca yaprağı kafatası-mikromelik kemik displazisi sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 156830 | BTNT | validated | |
| OMIM | 187601 | E | validated | |
| ICD-10 | Q77.1 | NTBT | attributed | validated |
| ICD-11 | LD24.02 | NTBT | index | validated |
| MONDO | 0008547 | E | validated | |
| MeSH | C536508 | E | validated | |
| UMLS | C1300257 | E | validated | |
| GARD | 1402 | 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
35 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000944 | Abnormal metaphysis morphology | |
| HP:0006703 | Aplasia/Hypoplasia of the lungs | |
| HP:0001156 | Brachydactyly | |
| HP:0002676 | Cloverleaf skull | |
| HP:0100543 | Cognitive impairment | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0012368 | Flat face | |
| HP:0001252 | Hypotonia | |
| HP:0001382 | Joint hypermobility | |
| HP:0000256 | Macrocephaly | |
| HP:0002983 | Micromelia | |
| HP:0000774 | Narrow chest | |
| HP:0000926 | Platyspondyly | |
| HP:0001582 | Redundant skin | |
| HP:0002093 | Respiratory insufficiency | |
| HP:0004322 | Short stature | |
| HP:0010306 | Short thorax | |
| HP:0002652 | Skeletal dysplasia | |
| Frequent (79-30%) | ||
| HP:0002007 | Frontal bossing | |
| HP:0000365 | Hearing impairment | |
| HP:0010880 | Increased nuchal translucency | |
| HP:0002808 | Kyphosis | |
| HP:0001561 | Polyhydramnios | |
| HP:0000520 | Proptosis | |
| HP:0001250 | Seizure | |
| HP:0002119 | Ventriculomegaly | |
| Occasional (29-5%) | ||
| HP:0002269 | Abnormality of neuronal migration | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000956 | Acanthosis nigricans | |
| HP:0001631 | Atrial septal defect | |
| HP:0002084 | Encephalocele | |
| HP:0001360 | Holoprosencephaly | |
| HP:0000238 | Hydrocephalus | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0001643 | Patent ductus arteriosus | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/93274
- This record as JSON: /data/d/93274.json