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Ectrodactyly and ectodermal dysplasia without cleft lip/palate

MedGen UID:
377536
•Concept ID:
C1851849
•
Disease or Syndrome
Synonym: EEC SYNDROME WITHOUT CLEFT LIP/PALATE
 
Monarch Initiative: MONDO:0007516
OMIM®: 129810
Orphanet: ORPHA1888

Recent clinical studies

Diagnosis

Endonasal dacryocystorhinostomy in a pediatric patient with ectrodactyly-ectodermal dysplasia after failure of external dacryocystorhinostomy and as first procedure.
Sacchi M, Serafino M, Dragonetti A, Lembo A, Nucci P
Ophthalmic Plast Reconstr Surg 2013 Jan-Feb;29(1):e27-9. doi: 10.1097/IOP.0b013e31825e6aad. PMID: 23128529

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    • ClinVar
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    • OMIM
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    • PubMed (OMIM)
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