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Kenny-Caffey syndrome

MedGen UID:
75560
•Concept ID:
C0265291
•
Disease or Syndrome
Synonym: Kenny syndrome
SNOMED CT: Kenny syndrome (82837002); Kenny-Caffey syndrome (82837002)
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:0016516
OMIM®: 127000
OMIM® Phenotypic series: PS127000
Orphanet: ORPHA2333

Definition

Kenny-Caffey syndrome is characterized by severe proportionate short stature, cortical thickening and medullary stenosis of the tubular bones, delayed closure of the anterior fontanel, eye abnormalities, and transient hypocalcemia. Patients with autosomal dominant KCS type 2 have normal intelligence (Kenny and Linarelli, 1966; Caffey, 1967; summary by Isojima et al., 2014). See KCS1 (244460) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome. [from OMIM]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVKenny-Caffey syndrome
Follow this link to review classifications for Kenny-Caffey syndrome in Orphanet.

Professional guidelines

PubMed

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Genetic Screening in a Large Chinese Cohort of Childhood Onset Hypoparathyroidism by Next-Generation Sequencing Combined with TBX1-MLPA.
Wang Y, Nie M, Wang O, Li Y, Jiang Y, Li M, Xia W, Xing X
J Bone Miner Res 2019 Dec;34(12):2254-2263. Epub 2019 Nov 13 doi: 10.1002/jbmr.3854. PMID: 31433868

Recent clinical studies

Etiology

Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W
Front Endocrinol (Lausanne) 2022;13:1073173. Epub 2023 Jan 4 doi: 10.3389/fendo.2022.1073173. PMID: 36686468Free PMC Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
A recurrent de novo FAM111A mutation causes Kenny-Caffey syndrome type 2.
Isojima T, Doi K, Mitsui J, Oda Y, Tokuhiro E, Yasoda A, Yorifuji T, Horikawa R, Yoshimura J, Ishiura H, Morishita S, Tsuji S, Kitanaka S
J Bone Miner Res 2014 Apr;29(4):992-8. doi: 10.1002/jbmr.2091. PMID: 23996431
Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy.
Demir T, Kecik D, Cehreli ZC
J Dent Child (Chic) 2007 Sep-Dec;74(3):236-40. PMID: 18482522
Kenny-Caffey syndrome. Case report.
Kozlowski K, Weisenbach J, Kosztolanyi G
Radiol Med 1998 Jun;95(6):669-71. PMID: 9717553

Diagnosis

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF
J Clin Endocrinol Metab 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. PMID: 36916904Free PMC Article
Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W
Front Endocrinol (Lausanne) 2022;13:1073173. Epub 2023 Jan 4 doi: 10.3389/fendo.2022.1073173. PMID: 36686468Free PMC Article
Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Adult Chinese twins with Kenny-Caffey syndrome type 2: A potential age-dependent phenotype and review of literature.
Cheng SSW, Chan PKJ, Luk HM, Mok MT, Lo IFM
Am J Med Genet A 2021 Feb;185(2):636-646. Epub 2020 Dec 1 doi: 10.1002/ajmg.a.61991. PMID: 33263187
Kenny-Caffey syndrome: an Arab variant?
Sabry MA, Farag TI, Shaltout AA, Zaki M, Al-Mazidi Z, Abulhassan SJ, Al-Torki N, Quishawi A, Al Awadi SA
Clin Genet 1999 Jan;55(1):44-9. doi: 10.1034/j.1399-0004.1999.550108.x. PMID: 10066031

Therapy

Ten-year use of recombinant parathyroid hormone for the treatment of hypoparathyroidism in a boy with partial Jacobsen syndrome.
Dayal D, Panigrahi I, Varma T, Gupta S, Gupta A, Kumar R, Sachdeva N
Pediatr Endocrinol Diabetes Metab 2021;27(1):57-61. doi: 10.5114/pedm.2020.100402. PMID: 33191722Free PMC Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Whole exome sequencing to identify genetic causes of short stature.
Guo MH, Shen Y, Walvoord EC, Miller TC, Moon JE, Hirschhorn JN, Dauber A
Horm Res Paediatr 2014;82(1):44-52. Epub 2014 Jun 20 doi: 10.1159/000360857. PMID: 24970356Free PMC Article
Anaesthetic management of the Kenny-Caffey syndrome using the laryngeal mask.
Janke EL, Fletcher JE, Lewis IH
Paediatr Anaesth 1996;6(3):235-8. doi: 10.1111/j.1460-9592.1996.tb00436.x. PMID: 8732617

Prognosis

Case report: Late middle-aged features of FAM111A variant, Kenny-Caffey syndrome type 2-suggestive symptoms during a long follow-up.
Ohmachi Y, Urai S, Bando H, Yokoi J, Yamamoto M, Kanie K, Motomura Y, Tsujimoto Y, Sasaki Y, Oi Y, Yamamoto N, Suzuki M, Shichi H, Iguchi G, Uehara N, Fukuoka H, Ogawa W
Front Endocrinol (Lausanne) 2022;13:1073173. Epub 2023 Jan 4 doi: 10.3389/fendo.2022.1073173. PMID: 36686468Free PMC Article
Diverse genetic aetiologies and clinical outcomes of paediatric hypoparathyroidism.
Kim JH, Shin YL, Yang S, Cheon CK, Cho JH, Lee BH, Kim GH, Lee JO, Seo EJ, Choi JH, Yoo HW
Clin Endocrinol (Oxf) 2015 Dec;83(6):790-6. Epub 2015 Oct 19 doi: 10.1111/cen.12944. PMID: 26384470
Pseudopapilledema in Kenny-Caffey syndrome.
Beral L, Donnio A, Jean-Charles A, Merle H
J Pediatr Ophthalmol Strabismus 2011;48 Online:e1-3. Epub 2010 May 21 doi: 10.3928/01913913-20090918-03. PMID: 19791716
Kenny-Caffey Syndrome: oral findings and 4-year follow-up of overlay denture therapy.
Demir T, Kecik D, Cehreli ZC
J Dent Child (Chic) 2007 Sep-Dec;74(3):236-40. PMID: 18482522
Kenny-Caffey syndrome. Case report.
Kozlowski K, Weisenbach J, Kosztolanyi G
Radiol Med 1998 Jun;95(6):669-71. PMID: 9717553

Clinical prediction guides

Clinical and Molecular Diagnosis of Osteocraniostenosis in Fetuses and Newborns: Prenatal Ultrasound, Clinical, Radiological and Pathological Features.
Rosato S, Unger S, Campos-Xavier B, Caraffi SG, Beltrami L, Pollazzon M, Ivanovski I, Castori M, Bonasoni MP, Comitini G, Nikkels PGJ, Lindstrom K, Umandap C, Superti-Furga A, Garavelli L
Genes (Basel) 2022 Jan 28;13(2) doi: 10.3390/genes13020261. PMID: 35205306Free PMC Article
Genotype-phenotype spectrum in isolated and syndromic nanophthalmos.
Lang E, Koller S, Atac D, Pfäffli OA, Hanson JVM, Feil S, Bähr L, Bahr A, Kottke R, Joset P, Fasler K, Barthelmes D, Steindl K, Konrad D, Wille DA, Berger W, Gerth-Kahlert C
Acta Ophthalmol 2021 Jun;99(4):e594-e607. Epub 2020 Sep 30 doi: 10.1111/aos.14615. PMID: 32996714
Pseudopapilledema in Kenny-Caffey syndrome.
Beral L, Donnio A, Jean-Charles A, Merle H
J Pediatr Ophthalmol Strabismus 2011;48 Online:e1-3. Epub 2010 May 21 doi: 10.3928/01913913-20090918-03. PMID: 19791716
Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.
Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A, Al Othman J, Diaz GA, Weiner R, Khan KT, Gordon R, Gelb BD; HRD/Autosomal Recessive Kenny-Caffey Syndrome Consortium
Nat Genet 2002 Nov;32(3):448-52. Epub 2002 Oct 21 doi: 10.1038/ng1012. PMID: 12389028
Kenny-Caffey syndrome and microorchidism.
Hoffman WH, Kovacs K, Li S, Kulharya AS, Johnson BL, Eidson MS, Cleveland WW
Am J Med Genet 1998 Nov 2;80(2):107-11. doi: 10.1002/(sici)1096-8628(19981102)80:2<107::aid-ajmg3>3.0.co;2-v. PMID: 9805124

Recent systematic reviews

Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.
Schigt H, Bald M, van der Eerden BCJ, Gal L, Ilenwabor BP, Konrad M, Levine MA, Li D, Mache CJ, Mackin S, Perry C, Rios FJ, Schlingmann KP, Storey B, Trapp CM, Verkerk AJMH, Zillikens MC, Touyz RM, Hoorn EJ, Hoenderop JGJ, de Baaij JHF
J Clin Endocrinol Metab 2023 Aug 18;108(9):e754-e768. doi: 10.1210/clinem/dgad147. PMID: 36916904Free PMC Article

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