ORPHA:93356

Spondyloepimetaphyseal dysplasia, Missouri type

Synonyms: SEMD type 2 · SEMD, Missouri type · Spondyloepimetaphyseal dysplasia type 2

Type: Disease
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Childhood, Infancy
Status: active

Spondyloepimetaphyseal dysplasia, Missouri type is characterized by moderate-to-severe metaphyseal changes, mild epiphyseal involvement, rhizomelic shortening of the lower limbs with bowing of the femora and/or tibiae, coxa vara, genu varum and pear-shaped vertebrae in childhood.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Spondyloepimetaphyseal dysplasia, Missouri type	SEMD type 2 · SEMD, Missouri type · Spondyloepimetaphyseal dysplasia type 2
fr	Dysplasie spondylo-épimétaphysaire type Missouri	Dysplasie spondylo-épimétaphysaire type 2 · SEMD type 2 · SEMD type Missouri
de	Dysplasie, spondyloepimetaphysäre, Typ Missouri
es	Displasia espondiloepimetafisaria tipo Missouri	Displasia espondiloepimetafisaria tipo 2 · SEMD tipo 2 · SEMD tipo Missouri
it	Displasia spondiloepimetafisaria, tipo Missouri	Displasia spondiloepimetafisaria, tipo 2 · SEMD, tipo 2 · SEMD, tipo Missouri
nl	Spondylo-epimetafysaire dysplasie, Missouri-type	SEMD type 2 · SEMD, Missouri-type · Spondylo-epimetafysaire dysplasie type 2
pt	Displasia espondiloepimetafisária, tipo Missouri	Displasia espondiloepimetafisária tipo 2 · SEMD tipo 2 · SEMD, tipo Missouri
pl	Dysplazja kręgowo-nasadowo-przynasadowa typu Missouri	SEMD typu 2 · SEMD, typ Missouri · Spondyloepimetaphyseal dysplasia type 2
cs	Spondyloepimetafyzární dysplázie, typ Missouri	SEMD typ 2 · SEMD, typ Missouri · Spondyloepimetafyzární dysplázie, typ 2
uk	Спондилоепіметафізарна дисплазія, тип Міссурі	SEMD тип 2 · SEMD, тип Міссурі · Спондилоепіметафізарна дисплазія типу 2
zh	脊椎干骺端发育不良，Missouri型	脊椎干骺端发育不良2型
tr	Spondiloepimetafizyal displazi, Missouri tipi	SEMD tip 2 · SEMD, Missouri tipi · Spondiloepimetafizyal displazi tip 2

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	602111	E		validated
ICD-10	Q77.7	NTBT	attributed	validated
ICD-11	LD24.3	NTBT	index	validated
MONDO	0011198	E		validated
MeSH	C566574	E		validated
UMLS	C1865832	E		validated
GARD	10618	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

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
MMP13	Disease-causing germline mutation(s) in	Assessed	HGNC:7159	ENSG00000137745	600108	11q22.2	matrix metallopeptidase 13

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		14 cases	Worldwide	Case(s)	Validated	9258750[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	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

12 annotations · validated 2021-07-02

HPO	Term (as annotated by Orphanet)	Diagnostic
Frequent (79-30%)
HP:0003498	Disproportionate short stature
HP:0002980	Femoral bowing
HP:0003015	Flared metaphysis
HP:0003071	Flattened epiphysis
HP:0002970	Genu varum
HP:0005086	Knee osteoarthritis
HP:0003025	Metaphyseal irregularity
HP:0004566	Pear-shaped vertebrae
HP:0006385	Short lower limbs
HP:0010585	Small epiphyses
HP:0025369	Thick growth plates
HP:0002982	Tibial bowing

Annotation source: 9258750[PMID]_16167086[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/93356
This record as JSON: /data/d/93356.json