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Hutterite cerebroosteonephrodysplasia syndrome(COND)

MedGen UID:
343466
Concept ID:
C1856054
Disease or Syndrome
Synonyms: Cerebroosteonephosis syndrome; COND
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Sources: HPO, OMIM, 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 homozygotes. In the context of medical genetics, autosomal recessive disorders manifest in homozygotes (with two copies of the mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal recessive inheritance (HPO, OMIM, Orphanet)
 
OMIM®: 236450

Clinical features

Nephrotic syndrome
MedGen UID:
10308
Concept ID:
C0027726
Disease or Syndrome
a kidney disease characterized by a high protein level in urine
Short stature
MedGen UID:
87607
Concept ID:
C0349588
Finding
Height greater than two standard deviations below the mean of the appropriate reference population for the age and sex of the individual.
Intellectual disability, severe
MedGen UID:
48638
Concept ID:
C0036857
Mental or Behavioral Dysfunction
Severe mental retardation is defined as an intelligence quotient (IQ) in the range of 20-34.
Feeding difficulties in infancy
MedGen UID:
436211
Concept ID:
C2674608
Finding
Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.

Recent clinical studies

Etiology

Boycott KM, Beaulieu CL, Kernohan KD, Gebril OH, Mhanni A, Chudley AE, Redl D, Qin W, Hampson S, Küry S, Tetreault M, Puffenberger EG, Scott JN, Bezieau S, Reis A, Uebe S, Schumacher J, Hegele RA, McLeod DR, Gálvez-Peralta M, Majewski J, Ramaekers VT; Care4Rare Canada Consortium, Nebert DW, Innes AM, Parboosingh JS, Abou Jamra R
Am J Hum Genet 2015 Dec 3;97(6):886-93. doi: 10.1016/j.ajhg.2015.11.002. PMID: 26637978Free PMC Article
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM
Am J Med Genet A 2013 Nov;161A(11):2855-9. Epub 2013 Sep 24 doi: 10.1002/ajmg.a.36172. [Epub ahead of print] PMID: 24108658
Gerull B, Kirchner F, Chong JX, Tagoe J, Chandrasekharan K, Strohm O, Waggoner D, Ober C, Duff HJ
Circ Cardiovasc Genet 2013 Aug;6(4):327-36. Epub 2013 Jul 17 doi: 10.1161/CIRCGENETICS.113.000097. [Epub ahead of print] PMID: 23863954
Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD
S D Med 2012 Jun;65(6):221-3, 225. PMID: 22856010
Innes AM, Boycott KM, Puffenberger EG, Redl D, MacDonald IM, Chudley AE, Beaulieu C, Perrier R, Gillan T, Wade A, Parboosingh JS
Clin Genet 2010 Nov;78(5):424-31. doi: 10.1111/j.1399-0004.2010.01481.x. PMID: 20618352

Diagnosis

Flanagan JD, Reuter S, Crotwell PL, Myers A, De Berg K
S D Med 2015 Mar;68(3):101-3. PMID: 25906497
Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD
S D Med 2015 Feb;68(2):65-7, 69. PMID: 25799636
Caluseriu O, Lowry BR, McLeod R, Lamont R, Parboosingh JS, Bernier FP, Innes AM
Am J Med Genet A 2013 Nov;161A(11):2855-9. Epub 2013 Sep 24 doi: 10.1002/ajmg.a.36172. [Epub ahead of print] PMID: 24108658
Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD
S D Med 2012 Jun;65(6):221-3, 225. PMID: 22856010
Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM
Am J Med Genet A 2010 Jun;152A(6):1349-56. doi: 10.1002/ajmg.a.33379. PMID: 20503307

Prognosis

Torbert N, Reuter S, Myers A, De Berg K, Crotwell PL, Flanagan JD
S D Med 2015 Feb;68(2):65-7, 69. PMID: 25799636
Flanagan JD, Stein QP, Mroch AR, Deberg KL, Crotwell PL, Keppen LD
S D Med 2012 Jun;65(6):221-3, 225. PMID: 22856010
Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM
Am J Med Genet A 2010 Jun;152A(6):1349-56. doi: 10.1002/ajmg.a.33379. PMID: 20503307
Sparkes R, Patton D, Bernier F
Cardiol Young 2007 Apr;17(2):215-7. Epub 2007 Jan 23 doi: 10.1017/S1047951107000042. [Epub ahead of print] PMID: 17244376
Glass HC, Boycott KM, Adams C, Barlow K, Scott JN, Chudley AE, Fujiwara TM, Morgan K, Wirrell E, McLeod DR
Dev Med Child Neurol 2005 Oct;47(10):691-5. doi: 10.1017/S0012162205001404. PMID: 16174313

Clinical prediction guides

Boycott KM, Beaulieu C, Puffenberger EG, McLeod DR, Parboosingh JS, Innes AM
Am J Med Genet A 2010 Jun;152A(6):1349-56. doi: 10.1002/ajmg.a.33379. PMID: 20503307
Cossée M, Lagier-Tourenne C, Seguela C, Mohr M, Leturcq F, Gundesli H, Chelly J, Tranchant C, Koenig M, Mandel JL
Neuromuscul Disord 2009 Apr;19(4):255-60. Epub 2009 Mar 19 doi: 10.1016/j.nmd.2009.02.003. [Epub ahead of print] PMID: 19303295
Moheb LA, Tzschach A, Garshasbi M, Kahrizi K, Darvish H, Heshmati Y, Kordi A, Najmabadi H, Ropers HH, Kuss AW
Eur J Hum Genet 2008 Feb;16(2):270-3. Epub 2007 Nov 28 doi: 10.1038/sj.ejhg.5201967. [Epub ahead of print] PMID: 18043714
Eichler EE, Nelson DL
Am J Med Genet 1996 Jul 12;64(1):220-5. doi: 10.1002/(SICI)1096-8628(19960712)64:1<220::AID-AJMG40>3.0.CO;2-M. PMID: 8826480

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