Myhre Syndrome

Description

Myhre syndrome is characterised by striking muscular build, short stature, reduced joint mobility, brachydactyly, mixed hearing loss and mental retardation of variable severity. Facial dysmorphism with short palpebral fissures, short philtrum, thin lips, maxillary hypoplasia and prognathism is present. Thick skin has been observed in six patients.

Clinical Features

Top most frequent phenotypes and symptoms related to Myhre Syndrome

  • Intellectual disability
  • Seizures
  • Global developmental delay
  • Short stature
  • Hearing impairment
  • Microcephaly
  • Ataxia
  • Growth delay
  • Hypertelorism
  • Strabismus

And another 138 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

Myhre Syndrome Is also known as laryngotracheal stenosis, arthropathy, prognathism, and short stature, laps syndrome, growth-mental deficiency syndrome of myhre, facial dysmorphism-intellectual disability-short stature-hearing loss syndrome.

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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Myhre Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Hereditary Pancreatic Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDK4, CDKN2A, PALB2, APC, SMAD4, MLH1, MSH2, MSH6, ATM, PMS2, RAD50
Specificity
6 %
Genes
100 %
High Risk Hereditary Colorectal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, STK11, EPCAM, TP53, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, PMS2, PTEN
Specificity
9 %
Genes
100 %
Comprehensive Hereditary Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

RUNX1, SDHA, SDHB, SDHC, SDHD, BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, VHL, WT1, CBL, SUFU, CDC73, CDH1, CDK4, CDKN1C, CDKN2A , (...)

View the complete list with 39 more genes
Specificity
2 %
Genes
100 %
Hereditary Colorectal/Gastrointestinal Cancer Panel.

By Baylor Miraca Genetics Laboratories (United States).

BMPR1A, BRCA1, BRCA2, STK11, EPCAM, TP53, CDH1, CDK4, CDKN2A, PALB2, ENG, APC, SMAD4, MLH1, MSH2, MSH6, MUTYH, ATM, PMS1, PMS2 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Comprehensive Pulmonary Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RPGR, SCNN1A, SCNN1B, SCNN1G, BMPR1B, BMPR2, SFTPA1, SFTPA2, SFTPB, SFTPC, SFTPD, SLC7A7, SPAG1, STAT3, TERC, TERT, TINF2, NKX2-1, TSC1, TSC2 , (...)

View the complete list with 73 more genes
Specificity
2 %
Genes
100 %
Arterial Hypertension Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

BMPR1B, BMPR2, CAV1, ACVRL1, ABCA3, ENG, GDF2, KCNA5, KCNK3, SMAD4, SMAD9
Specificity
10 %
Genes
100 %
NGS Vascular Disorders Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SOX18, TEK, VEGFC, GLMN, KRIT1, STAMBP, GJC2, ACVRL1, CCM2, CCBE1, ENG, FLT4, FOXC2, GATA2, GDF2, KIF11, SMAD4, PDCD10, PTEN, PTPN14 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
SMAD4 Gene Characterization.

By Molecular Pathology Laboratory University of Pennsylvania Health System (United States).

SMAD4
Specificity
100 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET MESH Rare Disease Symptoms Checker

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like NEURODEVELOPMENTAL DISORDER WITH EPILEPSY, CATARACTS, FEEDING DIFFICULTIES, AND DELAYED BRAIN MYELINATION; NECFM MULTIPLE PTERYGIUM SYNDROME, ESCOBAR VARIANT; EVMPS FANCONI ANEMIA, COMPLEMENTATION GROUP C; FANCC CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 1; PFIC1

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