KEGG DISEASE: Bent bone dysplasia syndrome

DISEASE: Bent bone dysplasia syndrome

Entry

H02629                      Disease

Name

Bent bone dysplasia syndrome

Description

Bent bone dysplasia syndrome (BBDS) is a congenital skeletal disorder characterized by bowed long bones within the limbs. It is usually lethal perinatally.

Category

Congenital malformation

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD24  Syndromes with skeletal anomalies as a major feature
    H02629  Bent bone dysplasia syndrome

Gene

(BBDS1) FGFR2 [HSA:2263] [KO:K05093]
(BBDS2) LAMA5 [HSA:3911] [KO:K06240]

Other DBs

ICD-11:

LD24.C

MeSH:

D001848

OMIM:

614592 620076

Reference

PMID:26573129 (BBDS1)

Authors

Stichelbout M, Dieux-Coeslier A, Clouqueur E, Collet C, Petit F

Title

A new case of bent bone dysplasia--FGFR2 type and review of the literature.

Journal

Am J Med Genet A 170:785-9 (2016)
DOI:10.1002/ajmg.a.37473

Reference

PMID:33242826 (BBDS2)

Authors

Barad M, Csukasi F, Bosakova M, Martin JH, Zhang W, Paige Taylor S, Lachman RS, Zieba J, Bamshad M, Nickerson D, Chong JX, Cohn DH, Krejci P, Krakow D, Duran I

Title

Biallelic mutations in LAMA5 disrupts a skeletal noncanonical focal adhesion pathway and produces a distinct bent bone dysplasia.

Journal

EBioMedicine 62:103075 (2020)
DOI:10.1016/j.ebiom.2020.103075

LinkDB

» Japanese version

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