Progeroid Syndrome, Petty Type

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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.

Genes related to Progeroid Syndrome, Petty Type

SLC25A24

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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.

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 Panel complete gene list SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, MSX2, POR, RECQL4 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 Panel complete gene list SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, MSX2, POR, RECQL4 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 Panel complete gene list SKI, TCF12, TGFBR1, TGFBR2, TWIST1, ZIC1, IFT122, RAB23, CDC45, WDR19, CYP26B1, SLC25A24, FREM1, WDR35, IFT43, EFNB1, MEGF8, ERF, FGFR1, FGFR2, FGFR3, GLI3, IL11RA, MSX2, POR, RECQL4 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 Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 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 Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 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 Panel complete gene list WRN, ZMPSTE24, BSCL2, BANF1, B3GALT6, SLC25A24, AGPAT2, ERCC2, ERCC3, ERCC4, ERCC5, ERCC6, ERCC8, FBN1, LMNA, PDGFRB, POLD1, B4GALT7, PYCR1, ALDH18A1, RECQL4 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.

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