ORPHA:3269

Isolated radio-ulnar synostosis

Synonyms: Isolated congenital radioulnar fusion

Type: Morphological anomaly
Group: Disorder
Inheritance: Unknown
Age of onset: Childhood, Infancy
Status: active

Congenital radioulnar synostosis is a rare bone disorder that may be isolated or associated with other disorders and that is characterized by failure of segmentation of the radius and ulna during embryological development, causing limited rotational movements of the forearm, which may lead to difficulties with some activities of daily living.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Isolated radio-ulnar synostosis	Isolated congenital radioulnar fusion
fr	Synostose radio-ulnaire isolée	Fusion radio-cubitale congénitale isolée · Fusion radio-ulnaire congénitale isolée · Synostose radio-cubitale congénitale isolée
de	Radio-ulnare Synostose, isolierte kongenitale	Isolierte angeborene radioulnare Fusion
es	Sinostosis radiocubital aislada	Fusión radiocubital congénita aislada
it	Sinostosi radio-ulnare isolata	Fusione radio-ulnare congenita isolata
nl	Geïsoleerde radio-ulnaire synostose	Geïsoleerde congenitale radio-ulnaire fusie
pt	Sinostose radio-cubital isolada congénita	Fusão radio-cubital isolada congénita
pl	Izolowana synostoza promieniowo-łokciowa	Zrost promieniowo-łokciowy
cs	Synostosis radioulnaris congenita	Radioulnární fúze
uk	Ізольований радіо-ульнарний синостоз	Ізольоване вроджене променево-запясткове зрощення
zh	先天性桡尺骨融合	桡尺骨融合
tr	Doğumsal radioulnar sinostoz	Radioulnar füzyon

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	179300	NTBT		validated
ICD-10	Q74.0	NTBT	inclusion	validated
ICD-11	LB90.3	E	specific	validated
MONDO	0017985	E		validated
UMLS	C5925005	E		validated
GARD	10876	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:93890Rare developmental defect during embryogenesis

Parents in the classifications (1):

ORPHA:294949Non-syndromic joint formation defects
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

Codes that Orphanet moved or referred to this one:

ORPHA:295217OBSOLETE: Radio-ulnar synostosis, unilateral referred to · inactive
ORPHA:295219OBSOLETE: Radio-ulnar synostosis, bilateral referred to · inactive

Genes

0 direct

Orphanet records no gene directly on this code.

Prevalence and incidence

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		350 cases	Worldwide	Case(s)	Validated	22802806[PMID]
Point prevalence	Unknown	—	Worldwide	Class only	Validated	ORPHANET_22802806[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

13 annotations · validated 2020-12-15

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002818	Abnormal morphology of the radius
HP:0040071	Abnormal morphology of ulna
HP:0002996	Limited elbow movement
HP:0006394	Limited pronation/supination of forearm
HP:0002974	Radioulnar synostosis
Occasional (29-5%)
HP:0001457	Abnormality of the musculature of the upper arm
HP:0003083	Dislocated radial head
HP:0030834	Shoulder pain
HP:0030836	Wrist pain
Very rare (<4-1%)
HP:0001374	Congenital hip dislocation
HP:0010442	Polydactyly
HP:0001159	Syndactyly
HP:0001762	Talipes equinovarus

Run the differential on the 5 obligate / very frequent terms

Annotation source: 28828125[PMID]_31138930[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/3269
This record as JSON: /data/d/3269.json