ORPHA:93347

Anauxetic dysplasia

Synonyms: Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type

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

A rare spondyloepimetaphyseal dysplasia characterized by severe short-limb short stature beginning prenatally, joint hypermobility, dental abnormalities, dysmorphic facial features (including hypertelorism, midface hypoplasia, macroglossia, and prognathism), and other skeletal anomalies (such as atlantoaxial subluxation causing compression of the spinal cord, kyphoscoliosis, hip dislocation, or rocker-bottom feet). Mild intellectual disability may also be present.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Anauxetic dysplasia	Spondyloepimetaphyseal dysplasia, Menger type · Spondyloepimetaphyseal dysplasia, anauxetic type
fr	Dysplasie anauxétique	Dysplasie spondylo-épimétaphysaire de Menger · Dysplasie spondylo-épimétaphysaire type anauxétique
de	Dysplasie, anauxetische	Dysplasie, spondyloepimetaphysäre, Typ Menger · Dysplasie, spondyloepimetaphysäre, anauxetischer Typ
es	Displasia anauxética	Displasia espondiloepimetafisaria tipo Menger · Displasia espondiloepimetafisaria tipo anauxética
it	Displasia anauxetica	Displasia spondiloepimetafisaria, tipo Menger · Displasia spondiloepimetafisaria, tipo anauxetico
nl	Anauxetische dysplasie	Spondylo-epimetafysaire dysplasie, Menger-type · Spondylo-epimetafysaire dysplasie, anauxetisch type
pt	Displasia anauxética
pl	Dysplazja kręgowo-nasadowo-przynasadowa typu Mengera	Spondyloepimetaphyseal dysplasia, anauxetic type · Spondyloepimetaphyseal dysplasia, Menger type
cs	Anauxetická dysplázie	Spondyloepimetafyzární dysplázie, anauxetický typ · Spondyloepimetafyzární dysplázie, Mengerův typ
uk	Анаеробна дисплазія	Спондилоепіметафізарна дисплазія, анаеробний тип · Спондилоепіметафізарна дисплазія, тип Менгера
zh	Anauxetic发育不良	脊椎干骺端发育不良，无刺激型
tr	Aneuksotik displazi	Spondiloepimetafizyal displazi, Menger tipi · Spondiloepimetafizyal displazi, anoksetik tip

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	607095	BTNT		validated
OMIM	617396	BTNT		validated
OMIM	618853	BTNT		validated
ICD-10	Q77.7	NTBT	attributed	validated
ICD-11	LD24.3	NTBT	index	validated
MONDO	0011773	E		validated
MeSH	C538256	E		validated
UMLS	C1846796	E		validated
GARD	9657	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:253Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

Genes

3 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
POP1	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:30129	ENSG00000104356	602486	8q22.2	POP1 ribonuclease P/MRP subunit	21455487[PMID]
RMP64	Disease-causing germline mutation(s) in	Assessed	HGNC:24496	ENSG00000163608	617089	3q13.2	ribonuclease MRP subunit p64	31250547[PMID]
RMRP	Disease-causing germline mutation(s) in	Assessed	HGNC:10031	ENSG00000277027	157660	9p13.3	RNA component of mitochondrial RNA processing endoribonuclease	22420014[PMID]

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		10 cases	Worldwide	Case(s)	Validated	27380734[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_27380734[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

Orphanet has no HPO annotation for this code in this release.

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93347
This record as JSON: /data/d/93347.json