ORPHA:2771

Bruck syndrome

Synonyms: Osteogenesis imperfecta-congenital joint contractures syndrome

A rare genetic bone disease characterized by the association of osteogenesis imperfecta and congenital joint contractures.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Bruck syndrome	Osteogenesis imperfecta-congenital joint contractures syndrome
fr	Syndrome de Bruck	Syndrome d'ostéogenèse imparfaite-contractures articulaires
de	Bruck-Syndrom	Osteogenesis imperfecta - kongenitale Gelenkkontrakturen
es	Síndrome de Bruck	Fragilidad ósea-contracturas articulares
it	Sindrome di Bruck	Osteogenesi imperfetta - contratture congenite delle articolazioni
nl	Syndroom van Bruck	Osteogenesis imperfecta - congenitale gewrichtscontracturen-syndroom
pt	Síndrome Bruck	Osteogénse imperfeita com artrogripose congénita
pl	Zespół Brucka	Wrodzona łamliwość kości - wrodzone przykurcze stawów
cs	Bruckův syndrom	Syndrom zahrnující osteogenesis imperfecta a vrozené kontraktury kloubů
uk	Синдром Брука	Синдром недосконалого остеогенезу - вроджені контрактури суглобів
zh	布鲁克综合征	成骨不全-先天性关节挛缩综合征
tr	Bruck sendromu	Osteogenezis imperfekta-doğumsal eklem kontraktür sendromu

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	259450	E		validated
OMIM	609220	BTNT		validated
ICD-10	Q78.0	NTBT	attributed	validated
ICD-11	LD24.KY	NTBT	index	validated
MONDO	0017195	E		validated
UMLS	C0432253	E		validated
GARD	1029	E		validated
MedDRA	10063718	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 (2):

ORPHA:93446Primary bone dysplasia with decreased bone density
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases
ORPHA:167762Rare disease with dentinogenesis imperfecta
rare genetic diseases; rare odontological diseases

No children.

2 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FKBP10	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:18169	ENSG00000141756	607063	17q21.2	FKBP prolyl isomerase 10	22085994[PMID]_22949511[PMID]_22689593[PMID]
PLOD2	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:9082	ENSG00000152952	601865	3q24	procollagen-lysine,2-oxoglutarate 5-dioxygenase 2	15523624[PMID]_22689593[PMID]

2 records

Type	Class	Value	Area	Qualification	Validation	Source
Cases/families		60 cases	Worldwide	Case(s)	Validated	25238597[PMID]
Point prevalence	<1 / 1 000 000	—	Worldwide	Class only	Validated	ORPHANET_25238597[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.

14 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0002804	Arthrogryposis multiplex congenita
HP:0001387	Joint stiffness
HP:0000939	Osteoporosis
HP:0002757	Recurrent fractures
HP:0004322	Short stature
HP:0002645	Wormian bones
Frequent (79-30%)
HP:0002808	Kyphosis
HP:0001059	Pterygium
HP:0002093	Respiratory insufficiency
HP:0002650	Scoliosis
HP:0001762	Talipes equinovarus
HP:0000325	Triangular face
Occasional (29-5%)
HP:0006487	Bowing of the long bones
HP:0000926	Platyspondyly