Wrinkly Skin Syndrome

Description

Wrinkly skin syndrome (WSS) is characterized by wrinkling of the skin of the dorsum of the hands and feet, an increased number of palmar and plantar creases, wrinkled abdominal skin, multiple skeletal abnormalities (joint laxity and congenital hip dislocation), late closing of the anterior fontanel, microcephaly, pre- and postnatal growth retardation, developmental delay and facial dysmorphism (a broad nasal bridge, downslanting palpebral fissures and hypertelorism).

Clinical Features

Top most frequent phenotypes and symptoms related to Wrinkly Skin Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape
  • Muscular hypotonia

And another 79 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

Wrinkly Skin Syndrome Is also known as wrinkled skin syndrome, wss.

Researches and researchers

Doctors, researchs, and experts related to Wrinkly Skin Syndrome extracted from public data.

Wrinkly Skin Syndrome Experts map



Current Researchs and researchers

  • BERLIN — Dr Uwe KORNAK

    Responsible for diagnostic tests - Investigator of research project

    • Institution/s:
      — Charité - Universitätsmedizin Berlin (CVK)
      — Institut für Medizinische Genetik und Humangenetik, Charité - Universitätsmedizin Berlin (CVK)
    • Research area/topic::

      Wrinkly skin syndrome - molecular and clinical characterization



Mendelian

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Wrinkly Skin Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMet®Plus aCGH Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RGS9, RHO, GRK1, RLBP1, RNASEL, BCS1L, RP1, RP2, RP9, RPE65, RPGR, RPL35A, MRPL3, RPS14, RS1, SAG, SARDH, SCO2, SCP2, SDHB , (...)

View the complete list with 612 more genes
Specificity
1 %
Genes
100 %
Congenital Disorders of Glycosylation Panel.

By Baylor Miraca Genetics Laboratories (United States).

SLC35A1, ALG9, ALG1, ATP6V0A2, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DPAGT1, DPM1, DPM3, RFT1 , (...)

View the complete list with 7 more genes
Specificity
4 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation.

By Athena Diagnostics Inc (United States).

SCN1A, SCN1B, SCN2A, SCN3A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC6A1, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS , (...)

View the complete list with 214 more genes
Specificity
1 %
Genes
100 %
Epilepsy Advanced Sequencing and CNV Evaluation - Syndromic Disorders.

By Athena Diagnostics Inc (United States).

SYNGAP1, TBX1, TSC1, TSC2, SETBP1, PANK2, ADGRV1, ATP6V0A2, MAGI2, VPS13A, ANKRD11, VPS13B, KIF1BP, KANSL1, SMC3, PIGV, NIPBL, ROGDI, GFAP, HPRT1 , (...)

View the complete list with 11 more genes
Specificity
4 %
Genes
100 %
NGS Connective Tissue Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SKI, TGFB2, TGFBR1, TGFBR2, TNXB, ACTA2, SLC2A10, CBS, ACVR1, ATP6V0A2, FKBP14, SLC39A13, ADAMTS2, COL11A1, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 13 more genes
Specificity
4 %
Genes
100 %
Congenital Disorders of Glycosylation.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SLC35A1, COG5, ALG9, ALG1, ATP6V0A2, COG4, COG6, COG7, COG8, ALG12, SLC35C1, ALG3, ALG6, ALG2, ALG8, DOLK, GNE, MOGS, SRD5A3, DDOST , (...)

View the complete list with 14 more genes
Specificity
3 %
Genes
100 %
Cerebral Cortical Malformation Sequencing Panel.

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

SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...)

View the complete list with 34 more genes
Specificity
2 %
Genes
100 %
Lissencephaly Sequencing Panel.

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

SNAP29, TUBG1, VLDLR, ACTB, RXYLT1, ACTG1, B4GAT1, NDE1, CDK5, FKRP, ARX, ATP6V0A2, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB, GMPPB, SRD5A3, POMGNT2 , (...)

View the complete list with 16 more genes
Specificity
3 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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