Abruzzo–Erickson syndrome
| Abruzzo–Erickson syndrome | |
|---|---|
| Other names | CHARGE like syndrome X-linked[1] |
| Causes | Genetic (X-linked recessive)[1] |
| Frequency | Extremely rare[1] |
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]
It was characterized in 1977.[4]
See also
References
- 1 2 3 "Abruzzo-Erickson syndrome | Genetic and Rare Diseases Information Center (GARD) – an NCATS Program". rarediseases.info.nih.gov. Retrieved 15 May 2018.
- ↑ 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.
- ↑ 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.
- ↑ 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.
External links
- Abruzzo–Erickson syndrome at NIH's Office of Rare Diseases
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