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Brachydactyly, type B1Robinow syndrome, autosomal recessive

MedGen UID:
808096
•Concept ID:
CN221286
•
Disease or Syndrome

Recent clinical studies

Etiology

Extending the phenotype of lethal skeletal dysplasia type al Gazali.
Grigelioniene G, Papadogiannakis N, Conner P, Geiberger S, Nishikawa M, Nakayama M
Am J Med Genet A 2011 Jun;155A(6):1404-8. Epub 2011 May 12 doi: 10.1002/ajmg.a.33990. PMID: 21567921
Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance.
Holder AM, Graham BH, Lee B, Scott DA
Am J Med Genet A 2007 Nov 1;143A(21):2576-80. doi: 10.1002/ajmg.a.31688. PMID: 17394214
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
Stoll C, Alembik Y
Genet Couns 2004;15(4):421-8. PMID: 15658617

Diagnosis

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.
Armour CM, Smith A, Hartley T, Chardon JW, Sawyer S, Schwartzentruber J, Hennekam R, Majewski J, Bulman DE; FORGE Canada Consortium, Suri M, Boycott KM
Am J Med Genet A 2016 Jul;170(7):1820-5. Epub 2016 May 2 doi: 10.1002/ajmg.a.37684. PMID: 27133561
Prenatal diagnosis of Carpenter syndrome: looking beyond craniosynostosis and polysyndactyly.
Victorine AS, Weida J, Hines KA, Robinson B, Torres-Martinez W, Weaver DD
Am J Med Genet A 2014 Mar;164A(3):820-3. Epub 2014 Jan 23 doi: 10.1002/ajmg.a.36362. PMID: 24458945
IMPAD1 mutations in two Catel-Manzke like patients.
Nizon M, Alanay Y, Tuysuz B, Kiper PO, Geneviève D, Sillence D, Huber C, Munnich A, Cormier-Daire V
Am J Med Genet A 2012 Sep;158A(9):2183-7. Epub 2012 Aug 6 doi: 10.1002/ajmg.a.35504. PMID: 22887726
Type 1 diabetes in a patient with Ellis-van Creveld syndrome.
Graziadio C, Bernardi P, Rosa RF, Zen PR, Paskulin GA
Sao Paulo Med J 2012;130(1):53-6. doi: 10.1590/s1516-31802012000100009. PMID: 22344360Free PMC Article
Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II, III, IV and VI: a new OFD syndrome?
Chitayat D, Stalker HJ, Azouz EM
Am J Med Genet 1992 Nov 15;44(5):567-72. doi: 10.1002/ajmg.1320440507. PMID: 1481810

Therapy

Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

Prognosis

Extending the phenotype of lethal skeletal dysplasia type al Gazali.
Grigelioniene G, Papadogiannakis N, Conner P, Geiberger S, Nishikawa M, Nakayama M
Am J Med Genet A 2011 Jun;155A(6):1404-8. Epub 2011 May 12 doi: 10.1002/ajmg.a.33990. PMID: 21567921
A novel single-base deletion in ROR2 causes atypical brachydactyly type B1 with cutaneous syndactyly in a large Chinese family.
Lv D, Luo Y, Yang W, Cao L, Wen Y, Zhao X, Sun M, Lo WH, Zhang X
J Hum Genet 2009 Jul;54(7):422-5. Epub 2009 May 22 doi: 10.1038/jhg.2009.48. PMID: 19461659
Brachydactyly type E in two sibs with increased bone density and mental retardation. A new autosomal recessive syndrome?
Stoll C, Alembik Y
Genet Couns 2004;15(4):421-8. PMID: 15658617
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC
Clin Genet 2002 Jun;61(6):454-8. doi: 10.1034/j.1399-0004.2002.610610.x. PMID: 12121354
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG
Nat Genet 2000 Aug;25(4):423-6. doi: 10.1038/78113. PMID: 10932187

Clinical prediction guides

Linked homozygous BMPR1B and PDHA2 variants in a consanguineous family with complex digit malformation and male infertility.
Yıldırım Y, Ouriachi T, Woehlbier U, Ouahioune W, Balkan M, Malik S, Tolun A
Eur J Hum Genet 2018 Jun;26(6):876-885. Epub 2018 Mar 26 doi: 10.1038/s41431-018-0121-7. PMID: 29581481Free PMC Article
The mutation ROR2W749X, linked to human BDB, is a recessive mutation in the mouse, causing brachydactyly, mediating patterning of joints and modeling recessive Robinow syndrome.
Raz R, Stricker S, Gazzerro E, Clor JL, Witte F, Nistala H, Zabski S, Pereira RC, Stadmeyer L, Wang X, Gowen L, Sleeman MW, Yancopoulos GD, Canalis E, Mundlos S, Valenzuela DM, Economides AN
Development 2008 May;135(9):1713-23. Epub 2008 Mar 19 doi: 10.1242/dev.015149. PMID: 18353862
Mutation in the cartilage-derived morphogenetic protein-1 (CDMP1) gene in a kindred affected with fibular hypoplasia and complex brachydactyly (DuPan syndrome).
Faiyaz-Ul-Haque M, Ahmad W, Zaidi SH, Haque S, Teebi AS, Ahmad M, Cohn DH, Tsui LC
Clin Genet 2002 Jun;61(6):454-8. doi: 10.1034/j.1399-0004.2002.610610.x. PMID: 12121354
Mutation of the gene encoding the ROR2 tyrosine kinase causes autosomal recessive Robinow syndrome.
van Bokhoven H, Celli J, Kayserili H, van Beusekom E, Balci S, Brussel W, Skovby F, Kerr B, Percin EF, Akarsu N, Brunner HG
Nat Genet 2000 Aug;25(4):423-6. doi: 10.1038/78113. PMID: 10932187
Limb anomalies in chromosomal aberrations.
Pfeiffer RA, Santelmann R
Birth Defects Orig Artic Ser 1977;13(1):319-37. PMID: 322750

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