Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii

Description

Microcephalic osteodysplastic primordial dwarfism (MOPD) types 1 and 3 are characterized by intrauterine and postnatal growth retardation, microcephaly, facial dysmorphism, skeletal dysplasia, low-birth weight and brain anomalies. Although MOPD types 1 and 3 were originally described as two separate entities on the basis of radiological criteria (notably small differences in pelvic and long bone structure), later reports confirmed that the two forms represent different modes of expression of the same syndrome.

Clinical Features

Top most frequent phenotypes and symptoms related to Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Generalized hypotonia
  • Hearing impairment
  • Microcephaly
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Sensorineural hearing impairment

And another 160 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

Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Is also known as microcephalic osteodysplastic primordial dwarfism, taybi-linder type, low-birth-weight dwarfism with skeletal dysplasia, mopd i, mopd types i and iii, osteodysplastic primordial dwarfism, type i, primordial microcephalic dwarfism, crachami type, mopd, cephaloske.

Researches and researchers

Doctors, researchs, and experts related to Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii extracted from public data.

Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Experts map



Current Researchs and researchers

  • BRON — Dr Sylvie MAZOYER

    Investigator of research project

    • Institution/s:
      — Groupement Hospitalier Est Hôpital Femme Mère Enfant
    • Research area/topic::

      Study of the physiopathology of RNU4ATAC-associated diseases



Mendelian

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Microcephalic Osteodysplastic Primordial Dwarfism Types I And Iii Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Comprehensive Primordial Dwarfism Panel.

By Genetic Services Laboratory University of Chicago (United States).

PLK4, XRCC4, CRIPT, PCNT, ORC6, CENPJ, CDC6, GMNN, RTTN, CDK5RAP2, CUL7, POC1A, CDT1, LARP7, CCDC8, SASS6, CEP63, OBSL1, CEP152, DNA2 , (...)

View the complete list with 8 more genes
Specificity
4 %
Genes
100 %
Microcephalic Osteodysplastic Primordial Dwarfism, Type I.

By Molecular Diagnostics Lab Nemours Alfred I. duPont Hospital for Children (United States).

RNU4ATAC
Specificity
100 %
Genes
100 %
RNU4ATAC. Complete sequencing.

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

RNU4ATAC
Specificity
100 %
Genes
100 %
Microcephalic osteodysplastic primordial dwarfism type I (sequence analysis of RNU4ATAC gene).

By CGC Genetics (Portugal).

RNU4ATAC
Specificity
100 %
Genes
100 %
Microcephalic primordial dwarfism Comprehensive panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Microcephalic primordial dwarfism NGS panel.

By Connective Tissue Gene Tests (United States).

XRCC4, NIN, PCNT, ORC6, CENPJ, CDC45, CDC6, GMNN, CDT1, CEP63, CEP152, DNA2, DONSON, TRAIP, ATRIP, RNU4ATAC, LIG4, ORC1, ORC4, ATR , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Spondylo-Epi-Metaphyseal dysplasias Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

RMRP, BGN, RUNX2, SLC26A2, SMARCAL1, ACP5, CFAP410, CCN6, XYLT1, RAB33B, B3GALT6, TRPV4, NANS, SBDS, CHST3, CANT1, DYM, COL10A1, COL11A1, COL11A2 , (...)

View the complete list with 33 more genes
Specificity
2 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

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