Melorheostosis With Osteopoikilosis

Description

Melorheostosis with osteopoikilosis is a rare sclerosing bone dysplasia, combining the clinical and radiological features of melorheostosis and osteopoikilosis (see these terms), that has been reported in some families with osteopoikilosis and that is characterized by a variable presentation of limb pain and deformities.

Clinical Features

Phenotypes and symptoms related to Melorheostosis With Osteopoikilosis

  • Hypertension
  • Abnormality of the skin
  • Subcutaneous nodule
  • Multiple lipomas
  • Abnormal cortical bone morphology
  • Osteopoikilosis
  • Complete duplication of the distal phalanges of the hand

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

Melorheostosis With Osteopoikilosis Is also known as msbd syndrome, mixed sclerosing bone dystrophy.

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.

Melorheostosis With Osteopoikilosis Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MitoMetĀ®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 Genetic Syndrome Finder

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