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Harrod syndrome

MedGen UID:
162895
Concept ID:
C0795970
Disease or Syndrome
Synonyms: Craniofacial digital genital anomalies; Harrod Doman Keele syndrome
SNOMED CT: Cranio-facio-digito-genital syndrome (716089008); Harrod syndrome (716089008); Craniofacial digital and genital anomalies syndrome (716089008)
 
Monarch Initiative: MONDO:0010993
OMIM®: 601095
Orphanet: ORPHA2115

Definition

The association of intellectual deficit, facial dysmorphism (a highly arched palate, pointed chin, and small mouth, hypotelorism, a long nose and large protruding ears), arachnodactyly, hypogenitalism (undescended testes and hypospadias) and failure to thrive. So far, it has been described in three males (including two brothers). An autosomal recessive mode of transmission has been suggested. [from SNOMEDCT_US]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVHarrod syndrome
Follow this link to review classifications for Harrod syndrome in Orphanet.

Professional guidelines

PubMed

Smith MT, McCrae CS, Cheung J, Martin JL, Harrod CG, Heald JL, Carden KA
J Clin Sleep Med 2018 Jul 15;14(7):1231-1237. doi: 10.5664/jcsm.7230. PMID: 29991437Free PMC Article
Rutledge JC, Weinberg AG, Friedman JM, Harrod MJ, Santos-Ramos R
Prenat Diagn 1986 Jan-Feb;6(1):51-61. doi: 10.1002/pd.1970060108. PMID: 3513152
Harrod MJ
Am Ann Deaf 1978 May;123(3):377-80, 419. PMID: 665464

Recent clinical studies

Etiology

RECOVERY Collaborative Group
Lancet Child Adolesc Health 2024 Mar;8(3):190-200. Epub 2024 Jan 22 doi: 10.1016/S2352-4642(23)00316-4. PMID: 38272046
Fortmann SD, Patton MJ, Frey BF, Tipper JL, Reddy SB, Vieira CP, Hanumanthu VS, Sterrett S, Floyd JL, Prasad R, Zucker JD, Crouse AB, Huls F, Chkheidze R, Li P, Erdmann NB, Harrod KS, Gaggar A, Goepfert PA, Grant MB, Might M
Blood Adv 2023 Aug 8;7(15):4200-4214. doi: 10.1182/bloodadvances.2022009022. PMID: 36920790Free PMC Article
Tran KA, Harrod C, Bourdette DN, Cohen DM, Deodhar AA, Hartung DM
JAMA Intern Med 2022 Feb 1;182(2):206-217. doi: 10.1001/jamainternmed.2021.7171. PMID: 34902005
Trotti LM, Goldstein CA, Harrod CG, Koo BB, Sharon D, Zak R, Chervin RD
J Clin Sleep Med 2015 Mar 15;11(3):293-310. doi: 10.5664/jcsm.4550. PMID: 25700882Free PMC Article
Langley RJ, Tipper JL, Bruse S, Baron RM, Tsalik EL, Huntley J, Rogers AJ, Jaramillo RJ, O'Donnell D, Mega WM, Keaton M, Kensicki E, Gazourian L, Fredenburgh LE, Massaro AF, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF, Sopori ML, Perrella MA, Choi AM, Harrod KS
Am J Respir Crit Care Med 2014 Aug 15;190(4):445-55. doi: 10.1164/rccm.201404-0624OC. PMID: 25054455Free PMC Article

Diagnosis

Smith MT, McCrae CS, Cheung J, Martin JL, Harrod CG, Heald JL, Carden KA
J Clin Sleep Med 2018 Jul 15;14(7):1231-1237. doi: 10.5664/jcsm.7230. PMID: 29991437Free PMC Article
Tsalik EL, Willig LK, Rice BJ, van Velkinburgh JC, Mohney RP, McDunn JE, Dinwiddie DL, Miller NA, Mayer ES, Glickman SW, Jaehne AK, Glew RH, Sopori ML, Otero RM, Harrod KS, Cairns CB, Fowler VG, Rivers EP, Woods CW, Kingsmore SF, Langley RJ
Kidney Int 2015 Oct;88(4):804-14. Epub 2015 May 20 doi: 10.1038/ki.2015.150. PMID: 25993322Free PMC Article
Langley RJ, Tipper JL, Bruse S, Baron RM, Tsalik EL, Huntley J, Rogers AJ, Jaramillo RJ, O'Donnell D, Mega WM, Keaton M, Kensicki E, Gazourian L, Fredenburgh LE, Massaro AF, Otero RM, Fowler VG Jr, Rivers EP, Woods CW, Kingsmore SF, Sopori ML, Perrella MA, Choi AM, Harrod KS
Am J Respir Crit Care Med 2014 Aug 15;190(4):445-55. doi: 10.1164/rccm.201404-0624OC. PMID: 25054455Free PMC Article
Ardinger HH, Hanson JW, Harrod MJ, Cohen MM Jr, Tibbles JA, Welch JP, Young-Wee T, Sommer A, Goldberg R, Shprintzen RJ
J Pediatr 1986 Feb;108(2):228-35. doi: 10.1016/s0022-3476(86)80988-x. PMID: 2418189
Griffin JE, Edwards C, Madden JD, Harrod MJ, Wilson JD
Ann Intern Med 1976 Aug;85(2):224-36. doi: 10.7326/0003-4819-85-2-224. PMID: 782313

Therapy

RECOVERY Collaborative Group
Lancet Child Adolesc Health 2024 Mar;8(3):190-200. Epub 2024 Jan 22 doi: 10.1016/S2352-4642(23)00316-4. PMID: 38272046
Margaroli C, Fram T, Sharma NS, Patel SB, Tipper J, Robison SW, Russell DW, Fortmann SD, Banday MM, Soto-Vazquez Y, Abdalla T, Saitornuang S, Madison MC, Leal SM Jr, Harrod KS, Erdmann NB, Gaggar A
JCI Insight 2023 May 22;8(10) doi: 10.1172/jci.insight.167042. PMID: 37071484Free PMC Article
Tran KA, Harrod C, Bourdette DN, Cohen DM, Deodhar AA, Hartung DM
JAMA Intern Med 2022 Feb 1;182(2):206-217. doi: 10.1001/jamainternmed.2021.7171. PMID: 34902005
Hauschildt KE, Seigworth C, Kamphuis LA, Hough CL, Moss M, McPeake JM, Harrod M, Iwashyna TJ
Am J Crit Care 2021 May 1;30(3):221-229. doi: 10.4037/ajcc2021825. PMID: 34161982Free PMC Article
Ardinger HH, Atkin JF, Blackston RD, Elsas LJ, Clarren SK, Livingstone S, Flannery DB, Pellock JM, Harrod MJ, Lammer EJ
Am J Med Genet 1988 Jan;29(1):171-85. doi: 10.1002/ajmg.1320290123. PMID: 3125743

Prognosis

Harrod MJ, Byrne JB, Dev VG, Francke U
Am J Med Genet 1980;7(2):123-9. doi: 10.1002/ajmg.1320070206. PMID: 7468644
Prystowsky SD, Maumenee IH, Freeman RG, Herndon JH Jr, Harrod MJ
Arch Dermatol 1977 May;113(5):602-5. PMID: 404968
Harrod JR, L'Heureux P, Wangensteen OD, Hunt CE
J Pediatr 1974 Feb;84(2):277-85. doi: 10.1016/s0022-3476(74)80623-2. PMID: 4589845

Clinical prediction guides

Harrod MJ, Friedman JM
Am J Med Genet 1991 Dec 15;41(4):500-2. doi: 10.1002/ajmg.1320410424. PMID: 1776644
Harrod MJ, Stokes J, Peede LF, Goldstein JL
Clin Genet 1976 Feb;9(2):183-6. doi: 10.1111/j.1399-0004.1976.tb01565.x. PMID: 1248177

Recent systematic reviews

Smith MT, McCrae CS, Cheung J, Martin JL, Harrod CG, Heald JL, Carden KA
J Clin Sleep Med 2018 Jul 15;14(7):1209-1230. doi: 10.5664/jcsm.7228. PMID: 29991438Free PMC Article

Supplemental Content

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