ORPHA:932

Achondrogenesis

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant, Autosomal recessive
Age of onset: Antenatal, Neonatal
Status: active

A rare group of lethal skeletal dysplasias characterized by an endochondral ossification deficiency that leads to dwarfism with extreme micromelia, a small thorax, a prominent abdomen, anasarca and polyhydramnios. There are three types of achondrogenesis that exist and that differ clinically, radiologically, histologically and genetically: achondrogensis type 1a, type 1b and type 2.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Achondrogenesis
fr	Achondrogenèse
de	Achondrogenesie
es	Acondrogénesis
it	Acondrogenesi
nl	Achondrogenesie
pt	Acondrogénese
pl	Achondrogeneza
cs	Achondrogeneze
uk	Ахондрогенез
zh	软骨成长不全
tr	Akondrogenez

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	200600	BTNT		validated
OMIM	200610	BTNT		validated
OMIM	600972	BTNT		validated
ICD-10	Q77.0	E	specific	validated
ICD-11	LD24.50	E	specific	validated
MONDO	0019648	E		validated
MeSH	C579878	E		validated
UMLS	C0001079	E		validated
GARD	2882	E		validated
MedDRA	10066122	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 (1):

ORPHA:93434Spondylodysplastic dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

Children (4):

Genes

0 direct · 4 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
TRIP11	ORPHA:93299Achondrogenesis type 1A	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:12305	ENSG00000100815	604505	14q32.12	thyroid hormone receptor interactor 11	20089971[PMID]
COL2A1	ORPHA:93296Achondrogenesis type 2	Disease-causing germline mutation(s) in	Assessed	HGNC:2200	ENSG00000139219	120140	12q13.11	collagen type II alpha 1 chain	10797431[PMID]
COL2A1	ORPHA:93297Hypochondrogenesis	Disease-causing germline mutation(s) in	Assessed	HGNC:2200	ENSG00000139219	120140	12q13.11	collagen type II alpha 1 chain	10797431[PMID]
SLC26A2	ORPHA:93298Achondrogenesis type 1B	Disease-causing germline mutation(s) in	Assessed	HGNC:10994	ENSG00000155850	606718	5q32	solute carrier family 26 member 2	20301689[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 100 000	2.8 / 100 000	France	Value and class	Validated	2785882[PMID]
Point prevalence	Unknown	—	Europe	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

23 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0003336	Abnormal enchondral ossification
HP:0004348	Abnormality of bone mineral density
HP:0000463	Anteverted nares
HP:0006703	Aplasia/Hypoplasia of the lungs
HP:0012368	Flat face
HP:0002007	Frontal bossing
HP:0001789	Hydrops fetalis
HP:0000343	Long philtrum
HP:0000256	Macrocephaly
HP:0000347	Micrognathia
HP:0002983	Micromelia
HP:0000774	Narrow chest
HP:0003510	Severe short stature
HP:0000470	Short neck
HP:0003196	Short nose
HP:0010306	Short thorax
HP:0002652	Skeletal dysplasia
HP:0000474	Thickened nuchal skin fold
Frequent (79-30%)
HP:0000023	Inguinal hernia
HP:0001561	Polyhydramnios
HP:0001537	Umbilical hernia
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0000476	Cystic hygroma

Run the differential on the 12 obligate / very frequent terms

Sources for this card

Orphanet page: orpha.net/en/disease/detail/932
This record as JSON: /data/d/932.json