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Brachyolmia

MedGen UID:: 96584
•Concept ID:: C0432228
•: Disease or Syndrome

Synonyms:	brachyolmia; brachyrachia
SNOMED CT:	Brachyolmia (254088006)
Modes of inheritance:	Autosomal recessive inheritance MedGen UID: 141025 •Concept ID: C0441748 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele). Autosomal dominant inheritance MedGen UID: 141047 •Concept ID: C0443147 • Intellectual Product Source: Orphanet A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Autosomal recessive inheritance (Orphanet) Autosomal dominant inheritance (Orphanet)

Monarch Initiative:	MONDO:0015262
Orphanet:	ORPHA1293

Definition

Brachyolmia is a rare, clinically and genetically heterogeneous group of bone disorders characterized by short trunk, mild short stature, scoliosis and generalized platyspondyly without significant abnormalities in the long bones. [from ORDO]

Term Hierarchy

GTR
MeSH
Orphanet

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

Brachyolmia

Brachyolmia

Follow this link to review classifications for Brachyolmia in Orphanet.

Recent clinical studies

Etiology

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Grigelioniene G, Geiberger S, Horemuzova E, Moström E, Jäntti N, Neumeyer L, Åström E, Nordenskjöld M, Nordgren A, Mäkitie O
Am J Med Genet A 2014 Jul;164A(7):1635-41. Epub 2014 Mar 26 doi: 10.1002/ajmg.a.36502. PMID: 24677493

TRPV4-associated skeletal dysplasias.

Nishimura G, Lausch E, Savarirayan R, Shiba M, Spranger J, Zabel B, Ikegawa S, Superti-Furga A, Unger S
Am J Med Genet C Semin Med Genet 2012 Aug 15;160C(3):190-204. Epub 2012 Jul 12 doi: 10.1002/ajmg.c.31335. PMID: 22791502

Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.

Rock MJ, Prenen J, Funari VA, Funari TL, Merriman B, Nelson SF, Lachman RS, Wilcox WR, Reyno S, Quadrelli R, Vaglio A, Owsianik G, Janssens A, Voets T, Ikegawa S, Nagai T, Rimoin DL, Nilius B, Cohn DH
Nat Genet 2008 Aug;40(8):999-1003. Epub 2008 Jun 29 doi: 10.1038/ng.166. PMID: 18587396 Free PMC Article

Brachyolmia and spinal stenosis.

Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M
Am J Med Genet A 2003 Jul 15;120A(2):272-5. doi: 10.1002/ajmg.a.20204. PMID: 12833413

Brachyolmia: an autosomal dominant form.

Gardner J, Beighton P
Am J Med Genet 1994 Feb 1;49(3):308-12. doi: 10.1002/ajmg.1320490313. PMID: 8209891

See all (15)

Diagnosis

Somatic mosaicism for a lethal TRPV4 mutation results in non-lethal metatropic dysplasia.

Weinstein MM, Kang T, Lachman RS, Bamshad M, Nickerson DA, Krakow D, Cohn DH
Am J Med Genet A 2016 Dec;170(12):3298-3302. Epub 2016 Aug 17 doi: 10.1002/ajmg.a.37942. PMID: 27530454 Free PMC Article

Whole exome sequencing identified a novel COL2A1 mutation that causes mild Spondylo-epiphyseal dysplasia mimicking autosomal dominant brachyolmia.

Takagi M, Shimizu M, Suzuki E, Shinohara H, Narumi S, Hasegawa T, Nishimura G, Hasegawa Y
Am J Med Genet A 2016 Mar;170(3):795-8. Epub 2015 Nov 19 doi: 10.1002/ajmg.a.37481. PMID: 26586363

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Brachyolmia and spinal stenosis.

Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M
Am J Med Genet A 2003 Jul 15;120A(2):272-5. doi: 10.1002/ajmg.a.20204. PMID: 12833413

Brachyolmia: a skeletal dysplasia with an altered mucopolysaccharide excretion.

Sewell AC, Wern C, Pontz BF
Clin Genet 1991 Oct;40(4):312-7. doi: 10.1111/j.1399-0004.1991.tb03101.x. PMID: 1836753

See all (23)

Therapy

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Dai J, Kim OH, Cho TJ, Schmidt-Rimpler M, Tonoki H, Takikawa K, Haga N, Miyoshi K, Kitoh H, Yoo WJ, Choi IH, Song HR, Jin DK, Kim HT, Kamasaki H, Bianchi P, Grigelioniene G, Nampoothiri S, Minagawa M, Miyagawa SI, Fukao T, Marcelis C, Jansweijer MC, Hennekam RC, Bedeschi F, Mustonen A, Jiang Q, Ohashi H, Furuichi T, Unger S, Zabel B, Lausch E, Superti-Furga A, Nishimura G, Ikegawa S
J Med Genet 2010 Oct;47(10):704-9. Epub 2010 Jun 24 doi: 10.1136/jmg.2009.075358. PMID: 20577006

See all (1)

Prognosis

Comparison of the natural course of clinical and radiologic features in 13 patients with TRPV4-related skeletal dysplasias.

Güneş N, Alkaya DU, Kurugoğlu S, Özyalvaç N, Bursalı A, Elçioğlu NH, Tüysüz B
Pediatr Radiol 2025 Mar;55(3):505-519. Epub 2025 Jan 18 doi: 10.1007/s00247-024-06145-7. PMID: 39825918

Autosomal dominant brachyolmia in a large Swedish family: phenotypic spectrum and natural course.

Fetal akinesia in metatropic dysplasia: The combined phenotype of chondrodysplasia and neuropathy?

Unger S, Lausch E, Stanzial F, Gillessen-Kaesbach G, Stefanova I, Di Stefano CM, Bertini E, Dionisi-Vici C, Nilius B, Zabel B, Superti-Furga A
Am J Med Genet A 2011 Nov;155A(11):2860-4. Epub 2011 Sep 30 doi: 10.1002/ajmg.a.34268. PMID: 21964829

Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.

Krakow D, Vriens J, Camacho N, Luong P, Deixler H, Funari TL, Bacino CA, Irons MB, Holm IA, Sadler L, Okenfuss EB, Janssens A, Voets T, Rimoin DL, Lachman RS, Nilius B, Cohn DH
Am J Hum Genet 2009 Mar;84(3):307-15. Epub 2009 Feb 19 doi: 10.1016/j.ajhg.2009.01.021. PMID: 19232556 Free PMC Article

Brachyolmia and spinal stenosis.

Mukamel M, Karmazyn B, de Vries L, Horev G, Shohat M
Am J Med Genet A 2003 Jul 15;120A(2):272-5. doi: 10.1002/ajmg.a.20204. PMID: 12833413

See all (7)

Clinical prediction guides

Truncating variants in PAPSS2 gene: A cause of early prenatal onset brachyolmia?

Biancotto G, Rosti G, Madia F, Capra V, Scala M, Aleo E, Paladini D
Prenat Diagn 2024 Jul;44(8):1003-1007. Epub 2024 May 20 doi: 10.1002/pd.6596. PMID: 38768012

Bownass L, Abbs S, Armstrong R, Baujat G, Behzadi G, Berentsen RD, Burren C, Calder A, Cormier-Daire V, Newbury-Ecob R, Foulds N, Juliusson PB, Kant SG, Lefroy H, Mehta SG, Merckoll E, Michot C, Monsell F, Offiah AC, Richards A, Rosendahl K, Rustad CF, Shears D, Tveten K, Wellesley D, Wordsworth P; Deciphering Developmental Disorders Study, Smithson S
Am J Med Genet A 2019 Sep;179(9):1884-1894. Epub 2019 Jul 16 doi: 10.1002/ajmg.a.61282. PMID: 31313512

Autosomal dominant brachyolmia: transient metaphyseal striations.

Lim YJ, Lee HR, Kim OH, Cho TJ, Park KB
Skeletal Radiol 2017 Sep;46(9):1297-1300. Epub 2017 Jun 10 doi: 10.1007/s00256-017-2684-8. PMID: 28601949

Novel and recurrent TRPV4 mutations and their association with distinct phenotypes within the TRPV4 dysplasia family.

Brachyolmia: radiographic and genetic evidence of heterogeneity.

Shohat M, Lachman R, Gruber HE, Rimoin DL
Am J Med Genet 1989 Jun;33(2):209-19. doi: 10.1002/ajmg.1320330214. PMID: 2669482

See all (9)