Ehlers-danlos Syndrome, Progeroid Type

Description

Ehlers-Danlos syndrome, progeroid type (EDS-PF) is a form of Ehlers-Danlos syndrome characterized by a premature aging with sparse hair, macrocephaly, loose elastic skin, failure to thrive, joint laxity, psychomotor retardation, hypotonia, and defective wound healing with atrophic scars.

Clinical Features

Top most frequent phenotypes and symptoms related to Ehlers-danlos Syndrome, Progeroid Type

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Hearing impairment
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Abnormal facial shape

And another 102 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

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

Ehlers-danlos Syndrome, Progeroid Type Is also known as pds, defective biosynthesis of, ehlers-danlos syndrome with short stature and limb anomalies, edsp1, formerly, eds, progeroid type, xgpt deficiency, dermatan sulfate proteoglycan, proteodermatan sulfate, defective biosynthesis of, edssla, xylosylprotein 4-beta-ga.

Researches and researchers

Doctors, researchs, and experts related to Ehlers-danlos Syndrome, Progeroid Type extracted from public data.

Ehlers-danlos Syndrome, Progeroid Type Experts map



Current Researchs and researchers

  • VANDOEUVRE-LÈS-NANCY — Pr Sylvie FOURNEL-GIGLEUX

    Investigator of research project

    • Institution/s:
      — UMR 7561 CNRS, Université de Lorraine
    • Research area/topic::

      Molecular basis for Ehlers-Danlos syndrome and search for new therapeutic strategies in the forms linked to a defect in glycosaminoglycan biosynthetic genes



Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Ehlers-danlos Syndrome, Progeroid Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
B4GALT7 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

B4GALT7
Specificity
100 %
Genes
50 %
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
50 %
Low Bone Mass Panel (MitomeNGS).

By Baylor Miraca Genetics Laboratories (United States).

SLC34A1, SLC9A3R1, TNFRSF11A, TNFRSF11B, IFITM5, SP7, FKBP10, P3H1, SLC39A13, COL1A2, COL3A1, COL5A1, COL5A2, CRTAP, FBN1, ALPL, SERPINF1, PLOD2, PLOD3, PPIB , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
50 %
Osteogenesis Imperfecta and Genetic Bone Disorders Panel.

By Collagen Diagnostic Laboratory University of Washington (United States).

BMP1, SEC24D, SPARC, TNFRSF11B, WNT1, MBTPS2, SERPINH1, XYLT2, NBAS, IFITM5, SP7, FKBP10, CREB3L1, P3H1, COL1A2, CRTAP, TMEM38B, GORAB, TAPT1, ALPL , (...)

View the complete list with 9 more genes
Specificity
4 %
Genes
50 %
Connective Tissue Disorders Panel.

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

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
Familial Aneurysm and Aortopathy.

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

SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, ACTA2, SLC2A10, CBS, B3GALT6, FKBP14, SLC39A13, ADAMTS2, COL1A2, COL3A1, COL5A1, COL5A2, ZNF469, CHST14 , (...)

View the complete list with 10 more genes
Specificity
7 %
Genes
100 %
B4GALT7.

By Institute for Human Genetics University Clinic Freiburg (Germany).

B4GALT7
Specificity
100 %
Genes
50 %
Connective Tissue Disorders Panel.

By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center (United States).

BGN, SKI, TGFB2, TGFB3, TGFBR1, TGFBR2, MED12, TNXB, C1R, C1S, ACTA2, ADAMTS10, SLC2A10, ADAMTSL2, CBS, TAB2, B3GALT6, ATP6V0A2, FKBP14, RIN2 , (...)

View the complete list with 45 more genes
Specificity
4 %
Genes
100 %

We have 78 more panels available in our App

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like TANGIER DISEASE MITOCHONDRIAL DNA DEPLETION SYNDROME 9 (ENCEPHALOMYOPATHIC TYPE WITH METHYLMALONIC ACIDURIA); MTDPS9 IMMUNODEFICIENCY, COMMON VARIABLE, 12; CVID12

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more