Keutel Syndrome

Description

Keutel syndrome is characterised by diffuse cartilage calcification, brachytelephalangism, peripheral pulmonary artery stenoses and facial dysmorphism.

Clinical Features

Top most frequent phenotypes and symptoms related to Keutel Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Abnormal facial shape
  • Depressed nasal bridge
  • Hypertension
  • Optic atrophy
  • Ventricular septal defect

And another 65 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

Keutel Syndrome Is also known as pulmonic stenosis-brachytelephalangism-calcification of cartilages syndrome, pulmonic stenosis, brachytelephalangism, and calcification of cartilages.

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.


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Keutel Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
MGP Sequencing.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

MGP
Specificity
100 %
Genes
100 %
MGP - Keutel syndrome.

By Centre of Molecular Diseases (CMM) CHUV (Switzerland).

MGP
Specificity
100 %
Genes
100 %
Keutel syndrome (sequence analysis of MGP gene).

By CGC Genetics (Portugal).

MGP
Specificity
100 %
Genes
100 %
Congenital Limb Malformation Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

ROR2, SALL1, BMP2, BMPR1B, SF3B4, FBXW4, SHH, BRCA2, SOX9, TBX15, TBX3, TBX5, THPO, WNT3, WNT7A, LMBR1, NSDHL, HDAC4, SALL4, TP63 , (...)

View the complete list with 48 more genes
Specificity
2 %
Genes
100 %
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 %
Chondrodysplasia punctata and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

NSDHL, FAR1, EBP, AGPS, GNPAT, LBR, MGP, ARSE, PEX7, PEX5
Specificity
10 %
Genes
100 %
Chondrodysplasia punctata and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

NSDHL, FAR1, EBP, AGPS, GNPAT, LBR, MGP, ARSE, PEX7, PEX5
Specificity
10 %
Genes
100 %
Chondrodysplasia punctata and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

NSDHL, FAR1, EBP, AGPS, GNPAT, LBR, MGP, ARSE, PEX7, PEX5
Specificity
10 %
Genes
100 %

We have 15 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Genetic Syndrome Finder

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