Catel-manzke Syndrome

Description

Catel-Manzke syndrome is a rare bone disease characterized by bilateral hyperphalangy and clinodactyly of the index finger typically in association with Pierre Robin sequence (see this term) comprising micrognathia, cleft palate and glossoptosis.

Clinical Features

Top most frequent phenotypes and symptoms related to Catel-manzke Syndrome

  • Seizures
  • Global developmental delay
  • Short stature
  • Scoliosis
  • Growth delay
  • Hypertelorism
  • Failure to thrive
  • Micrognathia
  • Abnormal facial shape
  • Cleft palate

And another 71 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

Catel-manzke Syndrome Is also known as index finger anomaly-pierre robin syndrome, index finger anomaly with pierre robin syndrome, pierre robin syndrome-hyperphalangy-clinodactyly syndrome, micrognathia digital syndrome, palatodigital syndrome, catel-manzke type, pierre robin syndrome with hyperph.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Catel-manzke Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

RMRP, ROR2, RUNX2, SALL1, BMP1, BMP2, BMPR1B, SF3B4, SH3BP2, FBXW4, SHH, SHOX, SKI, SLCO2A1, SLC26A2, SMARCAL1, SMC1A, SOX9, SQSTM1, TBX15 , (...)

View the complete list with 236 more genes
Specificity
1 %
Genes
100 %
Cleft lip, cleft palate and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
Cleft lip, cleft palate and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

BMP4, TBX22, SUMO1, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, MSX1, NECTIN1
Specificity
7 %
Genes
100 %
TGDS.

By Fulgent Genetics Fulgent Genetics (United States).

TGDS
Specificity
100 %
Genes
100 %
Congenital Structural Heart Disease Panel.

By Blueprint Genetics (Finland).

BMPR2, SOS2, TBX1, TBX20, TBX5, TFAP2B, TLL1, ZIC3, ACTA2, ACTB, ADAMTS10, NSD1, ACTC1, ACTG1, CRELD1, CBL, GATA5, SALL4, ZFPM2, TAB2 , (...)

View the complete list with 42 more genes
Specificity
2 %
Genes
100 %
Cleft Lip/Palate and Associated Syndromes Panel.

By Blueprint Genetics (Finland).

TBX22, KDM6A, TP63, TGDS, SATB2, COL11A1, COL11A2, COL9A1, COL9A2, COL9A3, GRHL3, FOXE1, IRF6, KMT2D, MSX1
Specificity
7 %
Genes
100 %

You can get up to -1 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM Rare Disease Search Engine

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