Metaphyseal Dysplasia Without Hypotrichosis; Mdwh

Clinical Features

Top most frequent phenotypes and symptoms related to Metaphyseal Dysplasia Without Hypotrichosis; Mdwh

  • Immunodeficiency
  • Severe short stature
  • Joint laxity
  • Hypotrichosis
  • Micromelia
  • Short metacarpal
  • Abnormality of the hair
  • Short long bone
  • Abnormality of pelvic girdle bone morphology
  • Genu varum

And another 6 symptoms. If you need more information about this disease we can help you.

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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

Metaphyseal Dysplasia Without Hypotrichosis; Mdwh Is also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency, chhv, cartilage-hair hypoplasia variant, skeletal manifestations only.

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.


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Metaphyseal Dysplasia Without Hypotrichosis; Mdwh Recommended genes panels

Panel Name, Specifity and genes Tested/covered
RMRP Sequence Analysis.

By Baylor Miraca Genetics Laboratories (United States).

RMRP
Specificity
100 %
Genes
100 %
RMRP Sequence Analysis (Familial Mutation/Variant Analysis).

By Baylor Miraca Genetics Laboratories (United States).

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

By Baylor Miraca Genetics Laboratories (United States).

RMRP
Specificity
100 %
Genes
100 %
GeneAware Complete Panel Version 2 (Female).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, BTK , (...)

View the complete list with 139 more genes
Specificity
1 %
Genes
100 %
GeneAware Complete Panel Version 2 (Male).

By Baylor Miraca Genetics Laboratories (United States).

RMRP, BCS1L, SACS, BLM, SGCA, SGCB, SGCG, SGSH, SLC12A6, SLC17A5, SLC22A5, SLC25A13, SLC25A15, SLC26A2, SLC35A3, SLC7A7, SMN1, SMPD1, BTD, TGM1 , (...)

View the complete list with 129 more genes
Specificity
1 %
Genes
100 %
Bone Marrow Failure Syndromes Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL15, RPL26, RPL35A, RPL5, RPS10, RPS17, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1 , (...)

View the complete list with 40 more genes
Specificity
2 %
Genes
100 %
Severe Combined Immunodeficiency and T Cell Disorders Panel by next-generation sequencing (NGS).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, STAT5B, STIM1, TBX1, FOXN1, ZAP70, CD3D, CD3E, DCLRE1C, ADA, NHEJ1, ORAI1, IL2RG, IL7R, JAK3, LIG4, PNP, PTPRC, RAG1, RAG2
Specificity
5 %
Genes
100 %
Bone Marrow Failure Syndromes Deletion/Duplication Panel.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

RMRP, RPL11, RPL26, RPL35A, RPL5, RPS10, RPS19, RPS24, RPS26, RPS7, BRCA2, SRP72, TAZ, TERC, TERT, TINF2, WAS, WIPF1, NHP2, NOP10 , (...)

View the complete list with 36 more genes
Specificity
2 %
Genes
100 %

We have 77 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Symptoms Checker

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