Kenny-caffey Syndrome, Type 2; Kcs2

Description

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 (OMIM ) for a discussion of an autosomal recessive form of Kenny-Caffey syndrome.

Clinical Features

Top most frequent phenotypes and symptoms related to Kenny-caffey Syndrome, Type 2; Kcs2

  • Seizures
  • Global developmental delay
  • Short stature
  • Pica
  • Hypertelorism
  • Growth delay
  • Abnormal facial shape
  • Cataract
  • Milia
  • Anemia
And another 50 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


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Kenny-caffey Syndrome, Type 2; Kcs2 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hypoparathyroidism Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, CHD7, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
6 %
Genes
100 %
Hypoparathyroidism sequencing panel.

By Genetic Services Laboratory University of Chicago in United States.

HADHA, CYP24A1, HADHB, AIRE, PRKAR1A, CASR, TBX1, GATA3, GNAS, GNA11, PDE4D, STX16, PTH, GCM2, FAM111A, TBCE, CDH7
Specificity
6 %
Genes
100 %
Kenny-Caffey syndrome, type 2 (KCS2, sequence analysis of FAM111A gene).

By CGC Genetics in Portugal.

FAM111A
Specificity
100 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
100 %
Hypomagnesemia (NGS panel for 17 genes).

By CGC Genetics in Portugal.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
6 %
Genes
100 %
Kenny-Caffey Syndrome Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAM111A, TBCE
Specificity
50 %
Genes
100 %
Hypoparathyroidism Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HADHA, HADHB, AIRE, CASR, GATA3, PTH1R, SOX3, GNAS, GNA11, AP2S1, STX16, PTH, GCM2, FAM111A, TBCE
Specificity
7 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, CLCN7, SHH, FBN1, DHODH , (...)

View the complete list with 238 more genes
Specificity
1 %
Genes
100 %
Hypomagnesemia Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

HNF1B, SARS2, CASR, SLC12A3, BSND, KCNA1, KCNJ10, PCBD1, EGFR, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF
Specificity
7 %
Genes
100 %
Kenny-Caffey Syndrome Type 2 via FAM111A Gene Sequencing with CNV Detection.

By PreventionGenetics PreventionGenetics in United States.

FAM111A
Specificity
100 %
Genes
100 %
Kenny-Caffey syndrome Comprehensive panel.

By Connective Tissue Gene Tests in United States.

FAM111A, TBCE
Specificity
50 %
Genes
100 %
Kenny-Caffey syndrome Deletion / Duplication panel.

By Connective Tissue Gene Tests in United States.

FAM111A, TBCE
Specificity
50 %
Genes
100 %
Kenny-Caffey syndrome NGS panel.

By Connective Tissue Gene Tests in United States.

FAM111A, TBCE
Specificity
50 %
Genes
100 %
Kenny-Caffey syndrome, type 2.

By Centogene AG - the Rare Disease Company in Germany.

FAM111A
Specificity
100 %
Genes
100 %
Selected Genetic Syndromes with skeletal involvement Panel.

By CeGaT GmbH in Germany.

RECQL4, LMX1B, FGFR3, CREBBP, FGFR2, CDKN1C, CENPJ, SALL1, CEP152, PCNT, ATR, GDF6, SH3PXD2B, DNA2, FGF10, SALL4, TBX5, EP300, RBBP8, GDF3 , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Potentially lethal skeletal disorders Panel.

By CeGaT GmbH in Germany.

ALPL, COL2A1, COL1A1, COL1A2, P3H1, CRTAP, AGPS, FAM20C, PPIB, FGFR3, DHCR7, FGFR2, PEX7, SLC26A2, TRPV4, FLNA, OFD1, LBR, COL11A1, COL11A2 , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
FAM111A.

By Fulgent Genetics Fulgent Genetics in United States.

FAM111A
Specificity
100 %
Genes
100 %
Hypomagnesemia Panel.

By Blueprint Genetics in Finland.

HNF1B, SARS2, CASR, SLC12A3, BSND, CLCNKB, KCNA1, KCNJ10, MAGT1, CNNM4, PCBD1, FAM111A, CLDN16, CLDN19, FXYD2, TRPM6, CNNM2, EGF, NIPA2
Specificity
6 %
Genes
100 %
Comprehensive Metabolism Panel.

By Blueprint Genetics in Finland.

HFE, MTHFR, MCCC1, MCCC2, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1, ALDOA, ALDOB, FBP1, PC, GYS2, ARG1, HLCS, BTD, ATP7B , (...)

View the complete list with 414 more genes
Specificity
1 %
Genes
100 %
Comprehensive Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, LRP5, COL2A1, COL1A1, COL1A2, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2, FBN1, SERPINF1, SP7 , (...)

View the complete list with 226 more genes
Specificity
1 %
Genes
100 %
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel.

By Blueprint Genetics in Finland.

RECQL4, ALPL, ANKH, TYROBP, FKBP10, B4GALT7, BCS1L, IFITM5, LRP5, COL2A1, COL1A1, COL1A2, COL3A1, SOST, TGFB1, LEMD3, TNFRSF11A, PYCR1, CLCN7, ATP6V0A2 , (...)

View the complete list with 288 more genes
Specificity
1 %
Genes
100 %

Alternate names

Kenny-caffey Syndrome, Type 2; Kcs2 Is also known as dwarfism, cortical thickening of tubular bones, and transient hypocalcemia, kenny syndrome;.



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