Choanal Atresia-hearing Loss-cardiac Defects-craniofacial Dysmorphism Syndrome

Description

Choanal atresia - deafness - cardiac defects - dysmorphism syndrome, also known as Burn-McKeown syndrome, is an extremely rare multiple congenital anomaly syndrome characterized by bilateral choanal atresia (see this term) associated with a characteristic cranio-facial dysmorphism (hypertelorism with narrow palpebral fissures, coloboma of inferior eyelid (see this term) with presence of eyelashes medial to the defect, prominent nasal bridge, thin lips, prominent ears), that can be accompanied by hearing loss, unilateral cleft lip, preauricular tags, cardiac septal defects and anomalies of the kidneys. The features of this syndrome overlaps considerably with those of the CHARGE syndrome (see this term).

Clinical Features

Top most frequent phenotypes and symptoms related to Choanal Atresia-hearing Loss-cardiac Defects-craniofacial Dysmorphism Syndrome

  • Short stature
  • Hearing impairment
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Cleft palate
  • Wide nasal bridge
  • Ventricular septal defect
  • Atrial septal defect
  • Short nose

And another 42 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

Choanal Atresia-hearing Loss-cardiac Defects-craniofacial Dysmorphism Syndrome Is also known as oculootofacial dysplasia, burn-mckeown syndrome, oofd.

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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Choanal Atresia-hearing Loss-cardiac Defects-craniofacial Dysmorphism 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
50 %
Treacher Collins syndrome and related disorders NGS panel.

By Connective Tissue Gene Tests (United States).

SF3B4, TCOF1, POLR1A, POLR1C, POLR1D, DHODH, TXNL4A, EFTUD2, EDNRA
Specificity
23 %
Genes
100 %
Treacher Collins syndrome and related disorders Deletion / Duplication panel.

By Connective Tissue Gene Tests (United States).

SF3B4, TCOF1, POLR1A, POLR1C, POLR1D, DHODH, TXNL4A, EFTUD2, EDNRA
Specificity
23 %
Genes
100 %
Treacher Collins syndrome and related disorders Comprehensive panel.

By Connective Tissue Gene Tests (United States).

SF3B4, TCOF1, POLR1A, POLR1C, POLR1D, DHODH, TXNL4A, EFTUD2, EDNRA
Specificity
23 %
Genes
100 %
Mental Retardation and Dysmorphology - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 322 more genes
Specificity
1 %
Genes
50 %
Syndromal Diseases - panels.

By MGZ Medical Genetics Center (Germany).

RIT1, ROR2, RPL10, RPS6KA3, RRAS, SALL1, SF3B4, SGSH, ST3GAL3, SLC16A2, BRAF, SLC6A8, SLC9A6, SNAI2, SMARCA2, SMARCA4, SMARCB1, SMARCE1, ARID1A, SMC1A , (...)

View the complete list with 321 more genes
Specificity
1 %
Genes
50 %
TXNL4A.

By Fulgent Genetics Fulgent Genetics (United States).

TXNL4A
Specificity
100 %
Genes
50 %
Burn-McKeown Syndrome: gene sequencing.

By CEN4GEN Institute for Genomics and Molecular Diagnostics (Canada).

TXNL4A
Specificity
100 %
Genes
50 %

We have 4 more panels available in our App

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Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Symptoms Checker

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