Abruzzo-Erickson syndrome

Summary: Abruzzo-Erickson syndrome is an extremely rare condition characterized by cleft palate, coloboma, hypospadius, deafness, short stature, and radioulnar synostosis.[1] Although the underlying cause of the condition is still being studied, it appears to result, at least in ...1

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Symptoms of Abruzzo-Erickson syndrome

Symptoms: Abruzzo-Erickson syndrome is characterized by an opening in the roof of the mouth (cleft palate), a gap or split in the structures that make up the eye (ocular coloboma), abnormal location for the opening of the urethra on ...2

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Genetics of Abruzzo-Erickson syndrome

Modes of inheritance: X-linked inheritance (HPO, OMIM) X-linked recessive inheritance (HPO, OMIM, Orphanet) ...Source: GTR (NCBI/NIH)3 ...

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Names and Terminology

Other Names: CHARGE like syndrome X-linked ...Source: GARD (NIH)4 ...

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References

  1. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 360/ abruzzo-erickson-syndrome
  2. ibid.
  3. Source: GTR (NCBI/NIH): ncbi.nlm.nih.gov/ gtr/ conditions/ C1844862/ 
  4. Source: GARD (NIH): rarediseases.info.nih.gov/ diseases/ 360/ abruzzo-erickson-syndrome

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