3mc Syndrome

Description

3MC syndrome describes a rare developmental disorder, that unifies the overlapping autosomal recessive disorders previously known as Carnevale, Mingarelli, Malpuech and Michels syndromes, characterized by a spectrum of developmental anomalies that include distinctive facial dysmorphism (i.e. hypertelorism, blepharophimosis, blepharoptosis, highly arched eyebrows), cleft lip and/or palate, craniosynostosis, learning disability, radioulnar synostosis and genital and vesicorenal anomalies. Less common features reported include anterior chamber defects, cardiac anomalies (e.g. ventricular septal defect; see this term), caudal appendage, umbilical hernia/omphalocele and diastasis recti.

Clinical Features

Top most frequent phenotypes and symptoms related to 3mc Syndrome

  • Intellectual disability
  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Ptosis
  • Low-set ears
  • Downslanted palpebral fissures
  • Umbilical hernia
  • Telecanthus
  • Hyperlordosis

And another 20 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

3mc Syndrome Is also known as craniofacial-ulnar-renal syndrome, malpuech-michels-mingarelli-carnevale syndrome.

Researches and researchers

Doctors, researchs, and experts related to 3mc Syndrome extracted from public data.

3mc Syndrome Experts map



Current Researchs and researchers

  • LONDON — Dr Melissa LEES

    Clinical expert - Investigator of research project

    • Institution/s:
      — Clinical Genetics Department, Level 4, York House, University College London Hospitals, NHS Foundation Trust
    • Research area/topic::

      Natural history and management in Malpuech syndrome



Mendelian

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3mc Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
COLEC10.

By Fulgent Genetics Fulgent Genetics (United States).

COLEC10
Specificity
100 %
Genes
34 %
3MC Syndrome Type 3, Sequencing COLEC10 Gene.

By Reference Laboratory Genetics (Spain).

COLEC10
Specificity
100 %
Genes
34 %
COLEC11. Complete sequencing.

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

COLEC11
Specificity
100 %
Genes
34 %
Craniofacial-ulnar-renal syndrome (sequence analysis of COLEC11 gene).

By CGC Genetics (Portugal).

COLEC11
Specificity
100 %
Genes
34 %
Mental retardation - different panels.

By Institute of Human Genetics Uniklinik RWTH Aachen (Germany).

RGS7, RIT1, RMRP, BCS1L, RPL10, RPS6KA3, RRAS, SALL1, SC5D, ATXN10, BLM, SCN1A, SCN2A, SCN8A, SCO2, AIMP1, SDCCAG8, SDHA, SDHB, SGSH , (...)

View the complete list with 845 more genes
Specificity
1 %
Genes
67 %
3MC2 syndrome.

By Centogene AG - the Rare Disease Company (Germany).

COLEC11
Specificity
100 %
Genes
34 %
Single gene testing COLEC11.

By CeGaT GmbH (Germany).

COLEC11
Specificity
100 %
Genes
34 %
Complement deficiencies Panel.

By CeGaT GmbH (Germany).

CFB, THBD, SERPING1, C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD59 , (...)

View the complete list with 14 more genes
Specificity
6 %
Genes
67 %

We have 23 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Symptoms Checker

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