Entry - %190600 - TRIPHALANGEAL THUMB, NONOPPOSABLE - OMIM

 
 
% 190600

TRIPHALANGEAL THUMB, NONOPPOSABLE


Clinical Synopsis
 

Limbs
- Triphalangeal thumb
- Nonopposable thumb
- Polydactyly
Misc
- Bilateral TPT almost always familial
- Unilateral TPT usually sporadic
Radiology
- Metacarpal of triphalangeal thumb has only a distal epiphysis
Inheritance
- Autosomal dominant
▲ Close

TEXT

▼ Clinical Features

Swanson and Brown (1962) described a family in which 30 persons in 5 generations had 5 triphalangeal digits of each hand and apparently lacked a true thumb. The 'thumb' could not be opposed. No associated internal malformations were detected. Triphalangeal thumb of this type occurs in some cases of the Holt-Oram syndrome (142900). Whereas in the cases of Swanson and Brown (1962) the metacarpal of the triphalangeal thumb had only a distal epiphysis, as is normal for metacarpals 2-5, the first metacarpal in the Holt-Oram syndrome shows both a proximal and a distal epiphysis. In 3 of the affected persons, Swanson and Brown (1962) found polydactyly.

Pierce (1974) described nonopposable triphalangeal thumbs in 3 sibs.

Warm et al. (1988) described a family in which 11 members in 4 generations had bilateral nonopposable triphalangeal fingerlike 'thumb.' One person had the defect only unilaterally; the contralateral biphalangeal nailless 'thumb' was hypoplastic. Polydactyly was noted in 2 members but the type could not be determined. Since 3 of the 30 affected persons in the family reported by Swanson and Brown (1962) had polydactyly as well, this may be an integral although variable feature of the disorder. Polydactyly with opposable triphalangeal thumb is probably a distinct disorder (174500).


▼ Inheritance

Qazi and Kassner (1988) suggested that isolated TPT of the nonopposable type is usually autosomal dominant, whereas isolated TPT of the opposable type is more likely to be unilateral and sporadic. Isolated TPT is bilateral in about 90% of cases; whereas bilateral TPT is almost always familial, unilateral TPT is usually sporadic.


▼ REFERENCES

  1. Pierce, E. R. Triphalangeal thumbs in three sibs. Birth Defects Orig. Art. Ser. 10(5): 218-221, 1974. [PubMed: 4469990, related citations]

  2. Qazi, Q., Kassner, E. G. Triphalangeal thumb. J. Med. Genet. 25: 505-520, 1988. [PubMed: 3050097, related citations] [Full Text]

  3. Swanson, A. B., Brown, K. S. Hereditary triphalangeal thumb. J. Hered. 53: 259-265, 1962.

  4. Warm, A., Di Pietro, C., D'Agrosa, F., Cambie, M., Gaboardi, F. Non-opposable triphalangeal thumb in an Italian family. J. Med. Genet. 25: 337-339, 1988. [PubMed: 3385742, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/2/1986
Edit History:
carol : 10/05/2022
alopez : 04/19/2013
mgross : 3/18/2004
carol : 12/4/1998
mimadm : 6/7/1995
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
root : 9/8/1988
carol : 7/14/1988

% 190600

TRIPHALANGEAL THUMB, NONOPPOSABLE



TEXT

Clinical Features

Swanson and Brown (1962) described a family in which 30 persons in 5 generations had 5 triphalangeal digits of each hand and apparently lacked a true thumb. The 'thumb' could not be opposed. No associated internal malformations were detected. Triphalangeal thumb of this type occurs in some cases of the Holt-Oram syndrome (142900). Whereas in the cases of Swanson and Brown (1962) the metacarpal of the triphalangeal thumb had only a distal epiphysis, as is normal for metacarpals 2-5, the first metacarpal in the Holt-Oram syndrome shows both a proximal and a distal epiphysis. In 3 of the affected persons, Swanson and Brown (1962) found polydactyly.

Pierce (1974) described nonopposable triphalangeal thumbs in 3 sibs.

Warm et al. (1988) described a family in which 11 members in 4 generations had bilateral nonopposable triphalangeal fingerlike 'thumb.' One person had the defect only unilaterally; the contralateral biphalangeal nailless 'thumb' was hypoplastic. Polydactyly was noted in 2 members but the type could not be determined. Since 3 of the 30 affected persons in the family reported by Swanson and Brown (1962) had polydactyly as well, this may be an integral although variable feature of the disorder. Polydactyly with opposable triphalangeal thumb is probably a distinct disorder (174500).


Inheritance

Qazi and Kassner (1988) suggested that isolated TPT of the nonopposable type is usually autosomal dominant, whereas isolated TPT of the opposable type is more likely to be unilateral and sporadic. Isolated TPT is bilateral in about 90% of cases; whereas bilateral TPT is almost always familial, unilateral TPT is usually sporadic.


REFERENCES

  1. Pierce, E. R. Triphalangeal thumbs in three sibs. Birth Defects Orig. Art. Ser. 10(5): 218-221, 1974. [PubMed: 4469990]

  2. Qazi, Q., Kassner, E. G. Triphalangeal thumb. J. Med. Genet. 25: 505-520, 1988. [PubMed: 3050097] [Full Text: https://doi.org/10.1136/jmg.25.8.505]

  3. Swanson, A. B., Brown, K. S. Hereditary triphalangeal thumb. J. Hered. 53: 259-265, 1962.

  4. Warm, A., Di Pietro, C., D'Agrosa, F., Cambie, M., Gaboardi, F. Non-opposable triphalangeal thumb in an Italian family. J. Med. Genet. 25: 337-339, 1988. [PubMed: 3385742] [Full Text: https://doi.org/10.1136/jmg.25.5.337]


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

Edit History:
carol : 10/05/2022
alopez : 04/19/2013
mgross : 3/18/2004
carol : 12/4/1998
mimadm : 6/7/1995
supermim : 3/16/1992
supermim : 3/20/1990
ddp : 10/27/1989
root : 9/8/1988
carol : 7/14/1988



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.

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 12, 2024