ORPHA:2655

Thanatophoric dysplasia

Synonyms: TD

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Not applicable
Age of onset: Antenatal, Neonatal
Status: active

A primary bone dysplasia with micromelia characterized by micromelia, macrocephaly, narrow thorax, and distinctive facial features. It includes TD, type 1 (TD1) and TD, type 2 (TD2), that can be differentiated from each other by femur and skull shape.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Thanatophoric dysplasia	TD
fr	Dysplasie thanatophore	= en
de	Thanatophore Dysplasie	Kleinwuchs, thanatophorer · TD
es	Displasia tanatofórica	Enanismo tanatofórico · TD
it	Displasia tanatofora	Nanismo tanatoforo · TD
nl	Thanatofore dysplasie	TD · Thanatofore dwerggroei
pt	Displasia tanatofórica	Nanismo tanatofórico
pl	Dysplazja tanatoforyczna	Karłowatość tanatoforyczna · TD
cs	Tanatoforická dysplázie	TD · Tanatoforické trpaslictví
uk	Танатофорна дисплазія	= en
zh	致死性发育不全	= en
tr	Tanatoforik displazi	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	156830	BTNT		validated
OMIM	187600	BTNT		validated
OMIM	187601	BTNT		validated
ICD-10	Q77.1	E	specific	validated
ICD-11	LD24.02	E	specific	validated
MONDO	0017042	E		validated
MeSH	D013796	E		validated
UMLS	C0039743	E		validated
GARD	85	E		validated
MedDRA	10089187	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):

ORPHA:93419Rare bone disease

Parents in the classifications (3):

ORPHA:93420FGFR3-related chondrodysplasia
rare genetic diseases
ORPHA:364536Primary bone dysplasia with micromelia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

Children (2):

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FGFR3	ORPHA:1860Thanatophoric dysplasia type 1	Disease-causing germline mutation(s) in	Assessed	HGNC:3690	ENSG00000068078	134934	4p16.3	fibroblast growth factor receptor 3	20301540[PMID]
FGFR3	ORPHA:93274Thanatophoric dysplasia type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:3690	ENSG00000068078	134934	4p16.3	fibroblast growth factor receptor 3	20301540[PMID]

Prevalence and incidence

9 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	3.5 / 100 000	Europe	Value and class	Validated	[EXPERT]
Point prevalence	<1 / 1 000 000	—	Europe	Class only	Not yet validated	ORPHANET
Prevalence at birth	1-9 / 100 000	2.8 / 100 000	France	Value and class	Validated	2785882[PMID]
Prevalence at birth	1-9 / 100 000	3.5 / 100 000	Italy	Value and class	Validated	3071354[PMID]
Prevalence at birth	1-9 / 100 000	1.7 / 100 000	Sweden	Value and class	Validated	8449630[PMID]
Prevalence at birth	1-9 / 100 000	3.8 / 100 000	Denmark	Value and class	Validated	2783977[PMID]
Prevalence at birth	1-9 / 100 000	8 / 100 000	Ireland	Value and class	Validated	22375084[PMID]
Prevalence at birth	1-9 / 100 000	4.7 / 100 000	Latin America	Value and class	Validated	22407836[PMID]
Prevalence at birth	1-9 / 100 000	4.3 / 100 000	United States	Value and class	Validated	22461456[PMID]

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

41 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000944	Abnormal metaphysis morphology
HP:0005280	Depressed nasal bridge
HP:0008873	Disproportionate short-limb short stature
HP:0012368	Flat face
HP:0001252	Hypotonia
HP:0010880	Increased nuchal translucency
HP:0002187	Intellectual disability, profound
HP:0000256	Macrocephaly
HP:0002983	Micromelia
HP:0000774	Narrow chest
HP:0000926	Platyspondyly
HP:0002089	Pulmonary hypoplasia
HP:0001582	Redundant skin
HP:0010306	Short thorax
HP:0002652	Skeletal dysplasia
Frequent (79-30%)
HP:0001156	Brachydactyly
HP:0002007	Frontal bossing
HP:0002282	Gray matter heterotopia
HP:0000365	Hearing impairment
HP:0001511	Intrauterine growth retardation
HP:0011800	Midface retrusion
HP:0000520	Proptosis
HP:0002119	Ventriculomegaly
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0002867	Abnormality of the ilium
HP:0000077	Abnormality of the kidney
HP:0100781	Abnormality of the sacroiliac joint
HP:0000956	Acanthosis nigricans
HP:0001631	Atrial septal defect
HP:0002676	Cloverleaf skull
HP:0000494	Downslanted palpebral fissures
HP:0001385	Hip dysplasia
HP:0000238	Hydrocephalus
HP:0001382	Joint hypermobility
HP:0001387	Joint stiffness
HP:0002808	Kyphosis
HP:0000369	Low-set ears
HP:0001643	Patent ductus arteriosus
HP:0001561	Polyhydramnios
HP:0002093	Respiratory insufficiency
HP:0001250	Seizure

Run the differential on the 12 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/2655
This record as JSON: /data/d/2655.json