Entry - 268320 - RODRIGUES BLINDNESS - OMIM

 
ICD+
268320

RODRIGUES BLINDNESS


Alternative titles; symbols

MICROPHTHALMIA, MICROCORNEA, AND SCLEROCORNEA WITH SHORT STATURE AND HAIR AND DENTAL ABNORMALITIES


Clinical Synopsis
 

INHERITANCE
- Autosomal recessive
GROWTH
Height
- Short stature
HEAD & NECK
Face
- Dysmorphic facial features
Ears
- Prominent ears
Eyes
- Blindness
- Microphthalmos
- Microcornea
- Sclerocornea
Nose
- Narrow nasal bridge
- Distal nasal flaring
Teeth
- Malaligned teeth
SKIN, NAILS, & HAIR
Hair
- Fine hair
- Sparse hair
NEUROLOGIC
Central Nervous System
- Mental retardation
▲ Close

▼ TEXT

On the island of Rodrigues in the Indian Ocean, Wallis and Beighton (1992) identified a brother and sister with moderately severe mental retardation, blindness due to severe ocular malformations (microphthalmia, microcornea, and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge with distal flaring of the nose and prominent ears), fine and sparse hair, and malaligned teeth. Wallis and Beighton (1992) emphasized, possibly inappropriately, the hair and dental changes in entitling their report.


▼ REFERENCES

  1. Wallis, C. E., Beighton, P. Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. J. Med. Genet. 29: 323-325, 1992. [PubMed: 1583659, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/23/1992
Edit History:
carol : 05/10/2007
alopez : 7/28/1997
mimadm : 3/12/1994
carol : 6/23/1992

268320

RODRIGUES BLINDNESS


Alternative titles; symbols

MICROPHTHALMIA, MICROCORNEA, AND SCLEROCORNEA WITH SHORT STATURE AND HAIR AND DENTAL ABNORMALITIES


ORPHA: 1806;  



TEXT

On the island of Rodrigues in the Indian Ocean, Wallis and Beighton (1992) identified a brother and sister with moderately severe mental retardation, blindness due to severe ocular malformations (microphthalmia, microcornea, and sclerocornea), short stature, dysmorphic facial features (narrow nasal bridge with distal flaring of the nose and prominent ears), fine and sparse hair, and malaligned teeth. Wallis and Beighton (1992) emphasized, possibly inappropriately, the hair and dental changes in entitling their report.


REFERENCES

  1. Wallis, C. E., Beighton, P. Ectodermal dysplasia with blindness in sibs on the island of Rodrigues. J. Med. Genet. 29: 323-325, 1992. [PubMed: 1583659] [Full Text: https://doi.org/10.1136/jmg.29.5.323]


Creation Date:
Victor A. McKusick : 6/23/1992

Edit History:
carol : 05/10/2007
alopez : 7/28/1997
mimadm : 3/12/1994
carol : 6/23/1992



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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: June 9, 2024