Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome; Cfsmr

Description

Cerebro-facio-thoracic dysplasia or Pascual-Castroviejo syndrome type 1 is a rare syndrome characterized by facial dysmorphism, intellectual deficit and costovertebral abnormalities.

Clinical Features

Top most frequent phenotypes and symptoms related to Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome; Cfsmr

  • Intellectual disability
  • Global developmental delay
  • Short stature
  • Generalized hypotonia
  • Pica
  • Microcephaly
  • Scoliosis
  • Hypertelorism
  • Growth delay
  • Micrognathia
And another 106 symptoms. If you need more information about this disease we can help you.
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Incidence and onset information

Not enough data available about incidence and published cases.


Mendelian

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Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome; Cfsmr Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Craniosynostosis (NGS panel for 30 genes).

By CGC Genetics in Portugal.

RECQL4, ALPL, FGFR3, FGFR2, FGFR1, WDR35, RAB23, POR, TWIST1, TGFBR1, TGFBR2, SKI, GLI3, IFT140, WDR19, SCARF2, ALX4, EFNB1, MASP1, IL11RA , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %
Cerebro-facio-thoracic dysplasia (sequence analysis of TMCO1 gene).

By CGC Genetics in Portugal.

TMCO1
Specificity
100 %
Genes
100 %
Mental retardation - different panels.

By Institute of Human Genetics Cologne University in Germany.

FMR1, UBE3A, PTEN, MCCC1, MCCC2, ACAD9, PC, ANKH, HLCS, ATP7A, AUH, B4GALT7, BCKDHA, BCKDHB, BCS1L, C12orf65, ADSL, MMACHC, PRKCG, PAX6 , (...)

View the complete list with 847 more genes
Specificity
1 %
Genes
100 %
AllNeuro panel.

By Centogene AG - the Rare Disease Company in Germany.

F2, F5, FMR1, HTT, HFE, MTHFR, TTR, UBE3A, VHL, PTEN, AARS2, ABHD12, ACACA, ACAD9, ACADL, ACADM, ACADS, AGL, ACADVL, ACAT1 , (...)

View the complete list with 1185 more genes
Specificity
1 %
Genes
100 %
Intellectual Disability NGS Panel.

By Fulgent Genetics Fulgent Genetics in United States.

BRCA2, F5, FMR1, MTHFR, TTR, UBE3A, PTEN, MCCC1, MCCC2, AGL, ACAT1, GYS2, ARG1, ATP7A, AUH, BCS1L, ADSL, FBLN5, LRP5, COL1A2 , (...)

View the complete list with 372 more genes
Specificity
1 %
Genes
100 %
TMCO1.

By Fulgent Genetics Fulgent Genetics in United States.

TMCO1
Specificity
100 %
Genes
100 %
TMCO1 Gene Sequencing and Deletion/Duplication Analysis.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TMCO1
Specificity
100 %
Genes
100 %
Overgrowth and Intellectual Disability NGS and Deletion/Duplication panel.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

PTEN, PLOD1, NSD1, PTCH1, CDKN1C, GPC3, SETD2, DNMT3A, NFIX, EZH2, RNF135, DIS3L2, TMCO1
Specificity
8 %
Genes
100 %
TMCO1 Defect Syndrome Targeted Testing.

By DDC Clinic Molecular Diagnostics Laboratory DDC Clinic, Center for Special Needs Children in United States.

TMCO1
Specificity
100 %
Genes
100 %
TMCO1 DEFECT SYNDROME.

By Laboratorio de Genetica Clinica SL in Spain.

TMCO1
Specificity
100 %
Genes
100 %

Alternate names

Craniofacial Dysmorphism, Skeletal Anomalies, And Mental Retardation Syndrome; Cfsmr Is also known as cerebrofaciothoracic dysplasia;pascual-castroviejo syndrome type 1.


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