Entry - 187350 - TELECANTHUS - OMIM

 
ICD+
187350

TELECANTHUS


Clinical Synopsis
 

Eyes
- Increased medial canthi separation without abnormal separation of the orbits
Mouth
- Bilateral cleft lip and cleft palate
Neuro
- Mental retardation
Teeth
- Dental agenesis
Inheritance
- Autosomal dominant
▲ Close

▼ TEXT

Pryor (1969) gave normal values for various interpupillary measurements. Juberg and Hirsch (1971) described primary telecanthus, increased separation of the medial canthi without abnormal separation of the orbits, in 5 females and 3 males of 5 generations. There was no instance of male-to-male transmission. The phenotype is that displayed by Jacqueline Kennedy Onassis. One instance of nonpenetrance was observed. Bilateral cleft lip and cleft palate occurred in some. Mental retardation and dental agenesis may be occasional manifestations of the gene.


▼ REFERENCES

  1. Juberg, R. C., Hirsch, R. Expressivity of heritable telecanthus in five generations of a kindred. Am. J. Hum. Genet. 23: 547-554, 1971. [PubMed: 5002294, related citations]

  2. Pryor, H. B. Objective measurement of interpupillary distance. Pediatrics 44: 973-977, 1969. [PubMed: 5365062, related citations]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
mimadm : 5/10/1995
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 6/2/1986

187350

TELECANTHUS


SNOMEDCT: 246803005;  



TEXT

Pryor (1969) gave normal values for various interpupillary measurements. Juberg and Hirsch (1971) described primary telecanthus, increased separation of the medial canthi without abnormal separation of the orbits, in 5 females and 3 males of 5 generations. There was no instance of male-to-male transmission. The phenotype is that displayed by Jacqueline Kennedy Onassis. One instance of nonpenetrance was observed. Bilateral cleft lip and cleft palate occurred in some. Mental retardation and dental agenesis may be occasional manifestations of the gene.


REFERENCES

  1. Juberg, R. C., Hirsch, R. Expressivity of heritable telecanthus in five generations of a kindred. Am. J. Hum. Genet. 23: 547-554, 1971. [PubMed: 5002294]

  2. Pryor, H. B. Objective measurement of interpupillary distance. Pediatrics 44: 973-977, 1969. [PubMed: 5365062]


Creation Date:
Victor A. McKusick : 6/2/1986

Edit History:
mimadm : 5/10/1995
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988
reenie : 6/2/1986



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.

NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2024 Johns Hopkins University.
Printed: May 7, 2024