Ablepharon macrostomia syndrome

Ablepharon macrostomia syndrome: A syndrome characterized by by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin), absent or sparse hair, genital ...1

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Ablepharon macrostomia syndrome is an extremely rare multiple congenital malformation syndrome characterized by the association of ablepharon, macrostomia, abnormal external ears, syndactyly of the hands and feet, skin findings (such as dry and coarse skin or redundant folds of skin) ...2

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Symptoms of Ablepharon macrostomia syndrome

Symptoms: The Human Phenotype Ontology (HPO) provides the following list of features that have been reported in people with this condition. Much of the information in the HPO comes from Orphanet, a European rare disease database. Signs and Symptoms

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Genetics of Ablepharon macrostomia syndrome

Modes of inheritance: Autosomal recessive inheritance (HPO, OMIM, Orphanet) Autosomal dominant inheritance (OMIM, Orphanet) ...Source: GTR (NCBI/NIH)3 ...

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Names and Terminology

Other Names: AMS; Congenital ablepharon, absent eyelashes/eyebrows, macrostomia, auricular, nasal, genital and other systemic anomalies ...Source: GARD (NIH)4 ...

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References

  1. Source: Disease Ontology
  2. Source: Monarch Initiative
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1860224/ 
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 3/ ablepharon-macrostomia-syndrome

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