Buschke-ollendorff Syndrome

Description

Buschke-Ollendorff syndrome (BOS) is a benign disorder characterized by the association of osteopoikilosis lesions (``spotted bones'') in the skeleton and connective tissue nevi in the skin.

Clinical Features

Top most frequent phenotypes and symptoms related to Buschke-ollendorff Syndrome

  • Short stature
  • Hearing impairment
  • Strabismus
  • Pain
  • Flexion contracture
  • Visual impairment
  • Hypertension
  • Skeletal muscle atrophy
  • Abnormality of the dentition
  • Renal insufficiency

And another 34 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Based on the latest data available BUSCHKE-OLLENDORFF SYNDROME have a estimated incidence of 5 per 100k in Europe.
No data available about the known clinical features onset.

Alternative names

Buschke-ollendorff Syndrome Is also known as dermatofibrosis, disseminated, with osteopoikilosis, osteopathia condensans disseminata, dermatoosteopoikilosis, dermatofibrosis lenticularis disseminata with osteopoikilosis, disseminated dermatofibrosis with osteopoikilosis.

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.

Buschke-ollendorff 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 %
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 %

You can get up to 20 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Genetic Syndrome Finder

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RADIOULNAR SYNOSTOSIS WITH AMEGAKARYOCYTIC THROMBOCYTOPENIA 2; RUSAT2 SUPRAVALVULAR AORTIC STENOSIS; SVAS MICROCEPHALY 17, PRIMARY, AUTOSOMAL RECESSIVE; MCPH17 ATAXIA-TELANGIECTASIA-LIKE DISORDER 1; ATLD1 CHROMOSOME 2p16.3 DELETION SYNDROME HYPERTRYPTOPHANEMIA; HYPTRP CARDIOMYOPATHY, DILATED, 1J; CMD1J