Cartilage-hair Hypoplasia

Description

Cartilage-hair hypoplasia is a disease affecting the bone metaphyses causing small stature from birth.

Clinical Features

Top most frequent phenotypes and symptoms related to Cartilage-hair Hypoplasia

  • Intellectual disability
  • Short stature
  • Scoliosis
  • Growth delay
  • Neoplasm
  • Failure to thrive
  • Strabismus
  • Muscular hypotonia
  • Cognitive impairment
  • Anemia

And another 143 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

Cartilage-hair Hypoplasia Is also known as autosomal recessive metaphyseal chondrodysplasia, metaphyseal chondrodysplasia, mckusick type.

Researches and researchers

Doctors, researchs, and experts related to Cartilage-hair Hypoplasia extracted from public data.

Cartilage-hair Hypoplasia Experts map



Current Researchs and researchers

  • PARIS — Pr Nicolas LEULLIOT

    Investigator of research project

    • Institution/s:
      — CNRS UMR 8015, Faculté de médecine Paris-Descartes, Site Necker
    • Research area/topic::

      RNPgenesis: Structure and function of ribonucleoprotein complexes assembly factors involved in human pathologies


  • ERLANGEN — Dr Christian T. THIEL

    Clinical geneticist - Investigator of research project

    • Institution/s:
      — Humangenetisches Institut am Universitätsklinikum Erlangen
    • Research area/topic::

      Cartilage-Hair Anauxetic dysplasia spectrum: functional studies and genotype-phenotype correlations


Cartilage-hair Hypoplasia 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 %

You can get up to 77 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Genetic Syndrome Finder

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