Isolated Osteopoikilosis

Clinical Features

Phenotypes and symptoms related to Isolated Osteopoikilosis

  • Short stature
  • Microcephaly
  • Skeletal dysplasia
  • Subcutaneous nodule
  • Ectopic kidney
  • Generalized osteosclerosis

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.

Researches and researchers

Doctors, researchs, and experts related to Isolated Osteopoikilosis extracted from public data.

Isolated Osteopoikilosis Experts map



Current Researchs and researchers

  • BRUSSELS — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models


  • BRUXELLES — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models


  • LAUSANNE — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models


  • ZÜRICH — Pr Olivier DEVUYST

    Clinical expert - Investigator of research project - Manager of registry - Coordinator of research network

    • Institution/s:
      — Service de néphrologie, Cliniques Universitaires UCL Saint-Luc
      — Université Catholique de Louvain - UCL
      — Département de Médecine, Centre Hospitalier Universitaire Vaudois CHUV
      — Universität Zürich
    • Research area/topic::

      EUROGROW: Pathophysiology of various osteochondrodysplasias by studying the cartilage growth plate in transgenic mice models



Mendelian

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Isolated Osteopoikilosis 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 %
LEMD3 Comprehensive - Sequence & Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LEMD3
Specificity
100 %
Genes
100 %
LEMD3 Deletion/Duplication Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LEMD3
Specificity
100 %
Genes
100 %
LEMD3 Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

LEMD3
Specificity
100 %
Genes
100 %
LEMD3 Sequence Analysis (Prenatal Diagnosis).

By Baylor Miraca Genetics Laboratories (United States).

LEMD3
Specificity
100 %
Genes
100 %
LEMD3. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

LEMD3
Specificity
100 %
Genes
100 %
Buschke-Ollendorff syndrome (sequence analysis of LEMD3 gene).

By CGC Genetics (Portugal).

LEMD3
Specificity
100 %
Genes
100 %
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

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 THROMBOCYTOPENIA 2; THC2 MYOTONIA, POTASSIUM-AGGRAVATED PILOMATRIXOMA MEGALOCORNEA; MGC1 DYSTONIA 9; DYT9 SPONDYLOEPIMETAPHYSEAL DYSPLASIA, STRUDWICK TYPE; SEMDSTWK GASTRIC CANCER, HEREDITARY DIFFUSE; HDGC

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