Entry - 140450 - HEART-HAND SYNDROME, SPANISH TYPE - OMIM

 
ICD+
140450

HEART-HAND SYNDROME, SPANISH TYPE


Clinical Synopsis
 

Cardiac
- Intraventricular conduction defect
- Sick sinus syndrome
Skel
- Brachydactyly
- Short middle phalanges, esp. index and fifth fingers
- Ulnar deviation of index fingers
Inheritance
- Autosomal dominant
▲ Close

▼ TEXT

Ruiz de la Fuente and Prieto (1980) described a new form of the heart-hand syndrome in 3 generations of a Spanish family with several instances of male-to-male transmission. The hand abnormality was brachydactyly, resembling brachydactyly type C (113100). The cardiac defect was intraventricular conduction defect in 3 and sick sinus syndrome in 1. The brachydactyly affected mainly the middle phalanges; the index and fifth fingers were more severely affected than the others. A wedge-shaped extra ossicle on the proximal phalanx of both index fingers reduced them in length and caused them to deviate toward the ulnar side of the hand. The feet were affected, but to a lesser degree.


▼ REFERENCES

  1. Ruiz de la Fuente, S., Prieto, F. Heart-hand syndrome. III. A new syndrome in three generations. Hum. Genet. 55: 43-47, 1980. [PubMed: 7450756, related citations] [Full Text]


Creation Date:
Victor A. McKusick : 6/4/1986
Edit History:
mimadm : 9/24/1994
supermim : 3/16/1992
carol : 1/25/1991
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988

140450

HEART-HAND SYNDROME, SPANISH TYPE


SNOMEDCT: 721013001;   ORPHA: 1342;  



TEXT

Ruiz de la Fuente and Prieto (1980) described a new form of the heart-hand syndrome in 3 generations of a Spanish family with several instances of male-to-male transmission. The hand abnormality was brachydactyly, resembling brachydactyly type C (113100). The cardiac defect was intraventricular conduction defect in 3 and sick sinus syndrome in 1. The brachydactyly affected mainly the middle phalanges; the index and fifth fingers were more severely affected than the others. A wedge-shaped extra ossicle on the proximal phalanx of both index fingers reduced them in length and caused them to deviate toward the ulnar side of the hand. The feet were affected, but to a lesser degree.


REFERENCES

  1. Ruiz de la Fuente, S., Prieto, F. Heart-hand syndrome. III. A new syndrome in three generations. Hum. Genet. 55: 43-47, 1980. [PubMed: 7450756] [Full Text: https://doi.org/10.1007/BF00329125]


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

Edit History:
mimadm : 9/24/1994
supermim : 3/16/1992
carol : 1/25/1991
supermim : 3/20/1990
ddp : 10/27/1989
marie : 3/25/1988



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OMIM® and Online Mendelian Inheritance in Man® are registered trademarks of the Johns Hopkins University.
Copyright® 1966-2025 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® 1966-2025 Johns Hopkins University.
Printed: March 14, 2025