Progeroid Syndrome, Petty Type

Description

Progeroid syndrome, Petty type is a rare premature aging syndrome characterized by pre-and postnatal growth retardation, a congenital premature-aged appearance with distinctive craniofacial dysmorphism (wide calvaria with large open anterior fontanel and wide metopic suture, broad forehead, small face, micrognathia), markedly diminished subcutaneous fat, cutis laxa and wrinkled skin, without delay in psychomotor development. Scant, brittle hair, hypoplastic nails and delayed, abnormal dentition, as well as hypoplastic distal phalanges, umbilical hernia and eye abnormalities (myopia/hyperopia, strabismus), are also commonly associated.

Clinical Features

Top most frequent phenotypes and symptoms related to Progeroid Syndrome, Petty Type

  • Short stature
  • Failure to thrive
  • Strabismus
  • Epicanthus
  • Intrauterine growth retardation
  • Mandibular prognathia
  • Umbilical hernia
  • Low-set, posteriorly rotated ears
  • Sparse hair
  • Broad forehead

And another 18 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Based on the latest data available there are 1 published cases of PROGEROID SYNDROME, PETTY TYPE in Europe.
No data available about the known clinical features onset.

Alternative names

Progeroid Syndrome, Petty Type Is also known as petty syndrome, petty-laxova-wiedemann 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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Progeroid Syndrome, Petty Type Recommended genes panels

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

By Connective Tissue Gene Tests (United States).

SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Craniosynostosis NGS panel.

By Connective Tissue Gene Tests (United States).

SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2 , (...)

View the complete list with 6 more genes
Specificity
4 %
Genes
100 %
Progeroid syndromes and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Progeroid syndromes and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
SLC25A24.

By Fulgent Genetics Fulgent Genetics (United States).

SLC25A24
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Genetic Syndrome Finder

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