Abruzzo–Erickson syndrome

Abruzzo–Erickson syndrome is a condition that may present with deafness, protruding ears, coloboma, a cleft palate or palatal rugosity, and short stature.[2][3]

Abruzzo–Erickson syndrome
Other namesCHARGE like syndrome X-linked[1]
CausesGenetic (X-linked recessive)[1]
FrequencyExtremely rare[1]

It was characterized in 1977.[4]

See also

References

  1. "Abruzzo-Erickson syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 May 2018.
  2. Schimke, Leonard Pinsky, Robert P. Erickson, R. Neil (1999). Genetic disorders of human sexual development (Dodr. ed.). New York: Oxford University Press. p. 260. ISBN 9780195109078.
  3. Jr, Robert J. Gorlin, Helga V. Toriello, M. Michael Cohen (1995). Hereditary hearing loss and its syndromes. New York: Oxford University Press. p. 127. ISBN 9780195065527.
  4. Abruzzo MA, Erickson RP (February 1977). "A new syndrome of cleft palate associated with coloboma, hypospadias, deafness, short stature, and radial synostosis". J. Med. Genet. 14 (1): 76–80. doi:10.1136/jmg.14.1.76. PMC 1013515. PMID 839509.
Classification
External resources


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