Keppen-lubinsky Syndrome

Description

Keppen-Lubinsky syndrome is a very rare disorder characterized by severely delayed psychomotor development, hypertonia, hyperreflexia, generalized lipodystrophy giving an aged appearance, and distinctive dysmorphic features, including microcephaly, prominent eyes, narrow nasal bridge, and open mouth (summary by Masotti et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Keppen-lubinsky Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Spasticity
  • Flexion contracture

And another 45 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Keppen-lubinsky Syndrome Is also known as generalized lipodystrophy-progeroid features-severe intellectual disability syndrome.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Keppen-lubinsky Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Congenital Generalized Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1
Specificity
17 %
Genes
100 %
Comprehensive Lipodystrophy Deletion/Duplication Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Comprehensive Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

ZMPSTE24, CAV1, BSCL2, TBC1D4, CIDEC, ADRA2A, AGPAT2, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PIK3R1, PLIN1, POLD1, PPARG, PSMB8, CAVIN1
Specificity
6 %
Genes
100 %
Congenital Generalized Lipodystrophy Panel.

By Genetic Services Laboratory University of Chicago (United States).

CAV1, BSCL2, AGPAT2, FBN1, KCNJ6, CAVIN1
Specificity
17 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Progeroid syndromes (NGS panel for 12 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BANF1, SPRTN, ERCC6, ERCC8, FBN1, KCNJ6, LMNA, POLD1
Specificity
9 %
Genes
100 %
Lipodystrophies and progeroid syndromes (NGS panel for 25 genes).

By CGC Genetics (Portugal).

BLM, WRN, ZMPSTE24, CAV1, BSCL2, BANF1, TBC1D4, CIDEC, SPRTN, AGPAT2, ERCC6, ERCC8, FBN1, AKT2, KCNJ6, LIPE, LMNA, LMNB2, PCYT1A, PIK3R1 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Symptoms Checker

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