Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Abnormality of the middle ear
Very frequent (80-99%)HP:0000370
Deafness
Very frequent (80-99%)HP:0000365
Inner ear abnormality
Very frequent (80-99%)HP:0000359
Preauricular sinus
Very frequent (80-99%)HP:0004467
Abnormality of branchial apparatus
Frequent (30-79%)HP:0009794
Aplasia/Hypoplasia of the cochlea
Frequent (30-79%)HP:0011395
Atretic auditory canal
Frequent (30-79%)HP:0000413
Branchial cleft fistula
Frequent (30-79%)HP:0009795
Branchial cleft sinus
Frequent (30-79%)HP:0100272
Branchial cyst
Frequent (30-79%)HP:0009796
Capuchin ears
Frequent (30-79%)HP:0000378
Dilated vestibular aqueduct
Frequent (30-79%)HP:0011387
Dysplastic ears
Frequent (30-79%)HP:0000377
Enlarged cochlear aqueduct
Frequent (30-79%)HP:0011388
Hearing loss, conductive
Frequent (30-79%)HP:0000405
Hearing loss, mixed
Frequent (30-79%)HP:0000410
Hypoplastic cochlea
Frequent (30-79%)HP:0008586
Lop ear
Frequent (30-79%)HP:0000394
Narrow ear canal
Frequent (30-79%)HP:0000402
Ossicular malformation
Frequent (30-79%)HP:0004452
Preauricular skin tags
Frequent (30-79%)HP:0000384
Renal hypoplasia/aplasia
Frequent (30-79%)HP:0008678
Abnormal lacrimal duct morphology
Occasional (5-29%)HP:0011481
Caliectasis
Occasional (5-29%)HP:0100581
Cleft of palate
Occasional (5-29%)HP:0000175
Ear anomalies
Occasional (5-29%)HP:0000356
Euthyroid goitre
Occasional (5-29%)HP:0009798
Global developmental delay, mild
Occasional (5-29%)HP:0011342
Gustatory lacrimation
Occasional (5-29%)HP:0100274
High arched palate
Occasional (5-29%)HP:0000218
Related Conditions
Autosomal dominant hereditary disorder(parent)
Multiple malformation syndrome with facial defects as major feature(parent)
Congenital anomaly of the kidney(parent)
Hereditary nephropathy(parent)
Congenital hearing disorder(parent)
Developmental malformation of branchial arch(parent)
Developmental hereditary disorder(parent)
Hereditary hearing loss(parent)
Quick Facts
- SNOMED CT
- 290006
- UMLS CUI
- C0265234
- Fully Specified Name
- Melnick-Fraser syndrome (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.