ORPHA:93329

Autosomal recessive omodysplasia

Synonyms: Micromelic dysplasia-dislocation of radius syndrome

This disease is described under Omodysplasia

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Autosomal recessive omodysplasia	Micromelic dysplasia-dislocation of radius syndrome
fr	Omodysplasie autosomique récessive	Syndrome de dysplasie micromélique-dysplasie du radius · Syndrome de dysplasie micromélique-luxation du radius
de	Omodysplasie, autosomal-rezessive Form	Mikromelie - Radiusdislokation
es	Omodisplasia, forma autosómica recesiva	Displasia micromélica-luxación del radio
it	Omodisplasia, forma autosomica recessiva	Displasia micromelica - dislocazione del radio
nl	Autosomaal recessieve omodysplasie	Micromelische dysplasie - luxatie van radius-syndroom
pt	Omodisplasia autossómica recessiva
pl	Autosomalna recesywna omodysplazja	Dysplazja mikromeliczna - przemieszczenie kości promieniowej
cs	Autozomálně recesivní omodysplázie	Syndrom zahrnující mikromelickou dysplázii a dislokaci radia
uk	Аутосомно-рецесивна омодисплазія	Мікромелічна дисплазія - синдром вивиху променевої кістки
zh	常染色体隐性肩胛骨发育不良	桡骨微发育不良-脱位综合征
tr	Otozomal resesif omodisplazi	Mikromelik displazi-radius çıkığı sendromu

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	258315	E		validated
ICD-10	Q78.8	NTBT	attributed	validated
ICD-11	LD24.A	NTBT	index	validated
MONDO	0009779	E		validated
MeSH	C537746	E		validated
UMLS	C1850318	E		validated
GARD	4076	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (1):

ORPHA:2733Omodysplasia
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
GPC6	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:4454	ENSG00000183098	604404	13q31.3-q32.1	glypican 6	19481194[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		23 cases	Worldwide	Case(s)	Validated	19481194[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.

24 annotations · validated 2017-12-13

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000944	Abnormal metaphysis morphology
HP:0002818	Abnormal morphology of the radius
HP:0000463	Anteverted nares
HP:0005280	Depressed nasal bridge
HP:0003042	Elbow dislocation
HP:0002007	Frontal bossing
HP:0005025	Hypoplastic distal humeri
HP:0000343	Long philtrum
HP:0000369	Low-set ears
HP:0000358	Posteriorly rotated ears
HP:0008905	Rhizomelia
HP:0004322	Short stature
Frequent (79-30%)
HP:0002823	Abnormality of femur morphology
HP:0000028	Cryptorchidism
HP:0003027	Mesomelia
HP:0000347	Micrognathia
HP:0002983	Micromelia
Occasional (29-5%)
HP:0030680	Abnormal cardiovascular system morphology
HP:0001363	Craniosynostosis
HP:0100790	Hernia
HP:0010880	Increased nuchal translucency
HP:0001249	Intellectual disability
HP:0001059	Pterygium
HP:0003196	Short nose