Entry - 179250 - RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA - OMIM

 
ICD+
179250

RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA


Clinical Synopsis
 

Limbs
- Nonopposable triphalangeal thumbs
- Radial hypoplasia
GU
- First-degree hypospadias in males
Facies
- Anterior maxillary diastema
Inheritance
- Autosomal dominant
▲ Close

▼ TEXT

Schmitt et al. (1982) described a family in which 5 females and 3 males over 3 generations had bilateral, symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. Affected males had first-degree hypospadias and all affected persons had anterior maxillary diastema. No male-to-male transmission was observed; however, transmission to only 2 of 4 daughters by an affected male favors autosomal (as opposed to X-linked) dominant inheritance.


▼ REFERENCES

  1. Schmitt, E., Gillenwater, J. Y., Kelly, T. E. An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospasdias and maxillary diastema. Am. J. Med. Genet. 13: 63-69, 1982. [PubMed: 7137222, related citations] [Full Text]


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

179250

RADIAL HYPOPLASIA, TRIPHALANGEAL THUMBS, HYPOSPADIAS, AND MAXILLARY DIASTEMA


SNOMEDCT: 716092007;   ORPHA: 2252;  



TEXT

Schmitt et al. (1982) described a family in which 5 females and 3 males over 3 generations had bilateral, symmetric, nonopposable triphalangeal thumbs and radial hypoplasia. Affected males had first-degree hypospadias and all affected persons had anterior maxillary diastema. No male-to-male transmission was observed; however, transmission to only 2 of 4 daughters by an affected male favors autosomal (as opposed to X-linked) dominant inheritance.


REFERENCES

  1. Schmitt, E., Gillenwater, J. Y., Kelly, T. E. An autosomal dominant syndrome of radial hypoplasia, triphalangeal thumbs, hypospasdias and maxillary diastema. Am. J. Med. Genet. 13: 63-69, 1982. [PubMed: 7137222] [Full Text: https://doi.org/10.1002/ajmg.1320130111]


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

Edit History:
mimadm : 2/25/1995
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 5, 2024