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Microtia with meatal atresia and conductive deafness

MedGen UID:
419093
•Concept ID:
C2931502
•
Disease or Syndrome
Synonyms: Gupta Patton syndrome; Microtia meatal atresia deafness dominant
 
Monarch Initiative: MONDO:0009634
OMIM®: 251800

Clinical features

From HPO
Conductive hearing impairment
MedGen UID:
9163
•Concept ID:
C0018777
•
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
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Microtia
MedGen UID:
57535
•Concept ID:
C0152423
•
Congenital Abnormality
Underdevelopment of the external ear.
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Anotia
MedGen UID:
152377
•Concept ID:
C0702139
•
Congenital Abnormality
Complete absence of any auricular structures.
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Aplasia/Hypoplasia of the middle ear
MedGen UID:
867171
•Concept ID:
C4021529
•
Finding
Aplasia or developmental hypoplasia of all or part of the middle ear.
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Wide mouth
MedGen UID:
44238
•Concept ID:
C0024433
•
Congenital Abnormality
Distance between the oral commissures more than 2 SD above the mean. Alternatively, an apparently increased width of the oral aperture (subjective).
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Facial asymmetry
MedGen UID:
266298
•Concept ID:
C1306710
•
Finding
An abnormal difference between the left and right sides of the face.
See: Feature record | Search on this feature
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Recent clinical studies

Etiology

Combined atresiaplasty and tragal reconstruction for microtia and congenital aural atresia: thesis for the American Laryngological, Rhinological, and Otological Society.
Yellon RF
Laryngoscope 2009 Feb;119(2):245-54. doi: 10.1002/lary.20023. PMID: 19172604
Management of congenital atresia of the external auditory canal.
Murphy TP, Burstein F, Cohen S
Otolaryngol Head Neck Surg 1997 Jun;116(6 Pt 1):580-4. doi: 10.1016/S0194-59989770231-6. PMID: 9215366

Diagnosis

Autosomal dominant microtia.
Chafai Elalaoui S, Cherkaoui Jaouad I, Rifai L, Sefiani A
Eur J Med Genet 2010 Mar-Apr;53(2):100-3. Epub 2010 Feb 10 doi: 10.1016/j.ejmg.2010.02.002. PMID: 20152949

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