% 131500

EPICANTHUS


Clinical Synopsis
 

Eyes
- Epicanthus
Inheritance
- Autosomal dominant

TEXT

Description

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).


Inheritance

Dominant inheritance of epicanthus was demonstrated in many pedigrees reviewed by Usher (1935).

Hu (1983) found epicanthus and epiblepharon of the upper eyelid and of the lower eyelid to be frequent among Chinese students: 38.1, 37.8, and 10.0%, respectively. He investigated 254 pairs of twins. The concordance rates were nearly 100% in monozygotic twins and in dizygotic twins were close to those expected of an autosomal dominant trait. Thus, all 3 traits are probably autosomal dominant.


REFERENCES

  1. Hu, D.-N. Ophthalmic genetics in China. Ophthalmic Paediat. Genet. 2: 39-45, 1983.

  2. Usher, C. H. Pedigrees of hereditary epicanthus. Biometrika 27: 5-25, 1935.


Creation Date:
Victor A. McKusick : 6/4/1986
carol : 04/25/2012
terry : 10/13/2010
carol : 3/18/2004
mimadm : 9/24/1994
carol : 7/22/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988

% 131500

EPICANTHUS



TEXT

Description

Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).


Inheritance

Dominant inheritance of epicanthus was demonstrated in many pedigrees reviewed by Usher (1935).

Hu (1983) found epicanthus and epiblepharon of the upper eyelid and of the lower eyelid to be frequent among Chinese students: 38.1, 37.8, and 10.0%, respectively. He investigated 254 pairs of twins. The concordance rates were nearly 100% in monozygotic twins and in dizygotic twins were close to those expected of an autosomal dominant trait. Thus, all 3 traits are probably autosomal dominant.


REFERENCES

  1. Hu, D.-N. Ophthalmic genetics in China. Ophthalmic Paediat. Genet. 2: 39-45, 1983.

  2. Usher, C. H. Pedigrees of hereditary epicanthus. Biometrika 27: 5-25, 1935.


Creation Date:
Victor A. McKusick : 6/4/1986

Edit History:
carol : 04/25/2012
terry : 10/13/2010
carol : 3/18/2004
mimadm : 9/24/1994
carol : 7/22/1993
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/26/1989
marie : 3/25/1988