Aarskog-scott Syndrome

Description

Aarskog-Scott syndrome (AAS) is a rare developmental disorder characterized by facial, limbs and genital features, and a disproportionate acromelic short stature.

Clinical Features

Top most frequent phenotypes and symptoms related to Aarskog-scott Syndrome

  • Short stature
  • Hypertelorism
  • Strabismus
  • Cleft palate
  • Cryptorchidism
  • Ptosis
  • Cognitive impairment
  • Epicanthus
  • Wide nasal bridge
  • Downslanted palpebral fissures

And another 39 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 Aarskog-scott Syndrome have a estimated birth prevalence of 0.5 per 100k worldwide.
No data available about the known clinical features onset.

Alternative names

Aarskog-scott Syndrome Is also known as aarskog syndrome, faciodigitogenital syndrome, faciogenital dysplasia.

Researches and researchers

Doctors, researchs, and experts related to Aarskog-scott Syndrome extracted from public data.

Aarskog-scott Syndrome Experts map



Current Researchs and researchers

  • NAPOLI — Dr Roman POLISHCHUK

    Investigator of research project

    • Institution/s:
      — TIGEM - Telethon Institute of Genetics and Medicine
    • Research area/topic::

      Pathogenesis of faciogenital dysplasia: the role of FGD1 in regulation of membrane transport


  • NIJMEGEN — Pr J.H.L.M. [Hans] VAN BOKHOVEN

    Coordinator of research network

    • Institution/s:
      — Radboudumc - Radboud universitair medisch centrum
    • Research area/topic::

      EURO-MRX: European mental retardation consortium



Mendelian

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Aarskog-scott Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
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 - Intellectual Disability.

By Athena Diagnostics Inc (United States).

SLC35A2, SLC6A8, SLC9A6, SMC1A, KDM5C, SMS, SNAP25, CDKL5, SYN1, SYP, CACNA2D1, PCDH19, ARHGEF9, DEAF1, CASK, ALG9, RAB39B, BCKDK, ARX, SPATA5 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %
Syndromic Autism Panel.

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

SCN1A, SCN2A, BRAF, SLC2A1, SLC9A6, SMC1A, KDM5C, CDKL5, STXBP1, TBR1, TCF4, MED12, TSC1, TSC2, UBE3A, HDAC8, CNTNAP2, FOXP2, CACNA1C, NSD1 , (...)

View the complete list with 63 more genes
Specificity
2 %
Genes
100 %
NGS XLID Panel.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TAF1, TIMM8A, TSPAN7, MED12, UBE2A, USP9X, ZMYM3, ZNF41, ZNF711 , (...)

View the complete list with 94 more genes
Specificity
1 %
Genes
100 %
Aarskog syndrome (FGD1).

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

FGD1
Specificity
100 %
Genes
100 %
Aarskog Syndrome.

By Center for Human Genetics, Inc (United States).

FGD1
Specificity
100 %
Genes
100 %
X-Linked Intellectual Disabilities Deletion/Duplication.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
Genes
100 %
X-linked Intellectual Disabilities Sequencing.

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

RPL10, RPS6KA3, SLC16A2, SLC9A6, SMC1A, KDM5C, SMS, SOX3, CDKL5, SYN1, SYP, TIMM8A, TSPAN7, MED12, UBE2A, ZNF711, FTSJ1, NSDHL, PCDH19, NLGN4X , (...)

View the complete list with 68 more genes
Specificity
2 %
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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