1. Mendelian
  2. Rare Diseases
  3. CEREBROCOSTOMANDIBULAR SYNDROME; CCMS

Cerebrocostomandibular Syndrome

Table of contents:

Description

Cerebro-costo-mandibular syndrome (CCMS) is characterized at birth by posterior rib gaps and orofacial anomalies reminiscent of Pierre Robin syndrome (see this term) that include palatal defects (short hard palate, absent soft palate, absent uvula), micrognathia and glossoptosis.

Genes related to Cerebrocostomandibular Syndrome

  • SNRPB

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Cerebrocostomandibular Syndrome

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Microcephaly
  • Scoliosis
  • Growth delay
  • Failure to thrive
  • Micrognathia
  • Cleft palate
  • Low-set ears

And another 62 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

Cerebrocostomandibular Syndrome Is also known as rib gap defects with micrognathia.

Researches and researchers

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

Cerebrocostomandibular Syndrome Experts map



Current Researchs and researchers

  • CALGARY — Dr François BERNIER

    Coordinator of expert centre - Investigator of research project

    • Institution/s:
      — Alberta Children's Hospital
    • Research area/topic::

      Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome


  • CALGARY — Dr Jillian PARBOOSINGH

    Responsible for diagnostic tests - Investigator of research project - Director of laboratory

    • Institution/s:
      — Alberta Health Services, Alberta Children's Hospital
    • Research area/topic::

      Investigating the Effects of Mutation in the Spliceosomal Gene SNRPB in Cerebro-Costo-Mandibular Syndrome


Cerebrocostomandibular Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniofacial Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq + Del/Dup Panel.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
Craniofacial Seq Analysis.

By Division of Genomic Diagnostics The Children's Hospital of Philadelphia (United States).

RUNX2, SALL1, SF3B4, SIX1, SIX5, SKI, SNRPB, TCF12, TCOF1, TWIST1, ZIC1, IFT122, RAB23, ALX1, CD96, POLR1A, WDR19, EVC2, POLR1C, POLR1D , (...)

View the complete list with 22 more genes
Specificity
3 %
Genes
100 %
CEREBROCOSTOMANDIBULAR SYNDROME.

By Laboratorio de Genetica Clinica SL (Spain).

SNRPB
Specificity
100 %
Genes
100 %

You can get up to -4 more panels with our dedicated tool

Learn more

Sources and references

You can check the following sources for additional information.

MESH ORPHANET OMIM Rare Disease Search Engine

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