Familial bent bone dysplasia syndrome

MedGen UID:: 1002385
•Concept ID:: CN322353
•: Disease or Syndrome

Synonym:	Bent bone dysplasia syndrome

Related genes: Gene(s) associated with related conditions. For conditions in a hierarchy, the parent condition will list the genes associated with the children conditions.	LAMA5, FGFR2

Monarch Initiative:	MONDO:0031615
OMIM® Phenotypic series:	PS614592

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVFamilial bent bone dysplasia syndrome
- CROGVBent bone dysplasia syndrome 1
- CROGVBent bone dysplasia syndrome 2

Familial bent bone dysplasia syndrome
- Bent bone dysplasia syndrome 1
- Bent bone dysplasia syndrome 2

Recent clinical studies

Etiology

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Leal GF, Nishimura G, Voss U, Bertola DR, Åström E, Svensson J, Yamamoto GL, Hammarsjö A, Horemuzova E, Papadiogannakis N, Iwarsson E, Grigelioniene G, Tham E
J Bone Miner Res 2018 Apr;33(4):753-760. Epub 2018 Jan 4 doi: 10.1002/jbmr.3348. PMID: 29178448

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Diagnosis

Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2.

Variability in kyphomelic dysplasia.

Cisarik F, Kozlowski K, Masel J, Sillence D
Pediatr Radiol 1999 Jul;29(7):551-7. doi: 10.1007/s002470050644. PMID: 10398797

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Prognosis

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1.

Miyake N, Wolf NI, Cayami FK, Crawford J, Bley A, Bulas D, Conant A, Bent SJ, Gripp KW, Hahn A, Humphray S, Kimura-Ohba S, Kingsbury Z, Lajoie BR, Lal D, Micha D, Pizzino A, Sinke RJ, Sival D, Stolte-Dijkstra I, Superti-Furga A, Ulrick N, Taft RJ, Ogata T, Ozono K, Matsumoto N, Neubauer BA, Simons C, Vanderver A
Neurogenetics 2017 Dec;18(4):185-194. Epub 2017 Aug 26 doi: 10.1007/s10048-017-0520-x. PMID: 28842795 Free PMC Article

Variability in kyphomelic dysplasia.

Cisarik F, Kozlowski K, Masel J, Sillence D
Pediatr Radiol 1999 Jul;29(7):551-7. doi: 10.1007/s002470050644. PMID: 10398797

See all (2)