#186100 SYNDACTYLY, TYPE III
Alternative
titles; symbols
SDTY3
RING AND LITTLE FINGER SYNDACTYLY
SYNDACTYLY OF FINGERS IV AND V
table OF
CONTENTS
Gene Map Locus: 6q22-q24
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TEXT
A number sign (#) is used with this entry
because of evidence that it is determined by a
mutation at the same locus as that where the
oculodentodigital syndrome gene (164200)
is located.
In this type there is usually complete and
bilateral syndactyly between the fourth and fifth
fingers. Usually it is soft tissue syndactyly but
occasionally the distal phalanges are fused. The
fifth finger is short with absent or rudimentary
middle phalanx. The feet are not affected. The
largest pedigree is that described by Johnston
and Kirby (1955) of 7 affected males and 7
affected females in 5 generations. Opjordsmoen
and Nyberg-Hansen (1980) described a family
from northern Norway with spastic paraplegia and
type III syndactyly. The 2 traits were transmitted
together through 3 generations and 9 affected
persons. The spastic paraplegia was of unusual
type: neurogenic bladder was the earliest
manifestation. Indeed, the spastic paraplegia
easily escaped attention. Are these 2 genes linked?
In 1 family (P17268) we observed soft-tissue
syndactyly IV and V in the mother and syndactyly
with some bony fusion of fingers III, IV, and V
bilaterally in the son. In the Johnston
and Kirby (1955) pedigree, 1 person had
syndactyly of all 3 fingers. The family reported by
Johnston and Kirby (1955)
was one of the largest fully described pedigrees,
involving 7 males and 7 females in a pattern
compatible with autosomal dominant inheritance.
Brueton et al. (1990)
described a family with type III syndactyly and a
facial phenotype resembling that of
oculodentodigital dysplasia (ODDD; 164200)
without any of the other characteristic ocular and
dental features. They noted that Temtamy
and McKusick (1978) had reported an isolated
patient who had a peculiar facies with small,
widely spaced eyes, raising the possibility of ODDD
even in the absence of ocular or dental
abnormalities. Gladwin et al.
(1997) included the family of Brueton
et al. (1990) in their linkage study which
yielded results consistent with location of the
gene in 6q22-q24 where the gene for ODDD syndrome
was assigned. They raised the possibility that
isolated type III syndactyly may be encoded by the
same gene as ODDD syndrome.
McKiernan and McCann
(1993) reported a 4-generation family with 14
affected members and several instances of
male-to-male transmission.
De Smet et al. (1994)
reported experience with 5 patients with syndactyly
of the ring and small fingers as an isolated
malformation; 3 of the patients had affected
relatives in a pattern consistent with autosomal
dominant inheritance. In 2 instances, a person who
seemed to represent a skipped generation showed
clinodactyly of the fifth finger with no
syndactyly. There was 1 instance of male-to-male
transmission.
REFERENCES
- 1. Brueton, L. A.;
Huson, S. M.; Farren, B.; Winter, R. M. :
- Oculodentodigital dysplasia and type
III syndactyly: separate genetic entities or
disease spectrum? J. Med.
Genet. 27: 169-175, 1990.
PubMed ID : 2157843
- 2. De Smet, L.;
Mulier, T.; Fabry, G. :
- Syndactyly of the ring and small
finger. Genet. Counsel. 5:
45-49, 1994.
- 3. Gladwin, A.;
Donnai, D.; Metcalfe, K.; Schrander-Stumpel, C.;
Brueton, L.; Verloes, A.; Aylsworth, A.;
Toriello, H.; Winter, R.; Dixon, M. :
- Localization of a gene for
oculodentodigital syndrome to human chromosome
6q22-q24. Hum. Molec. Genet.
6: 123-127, 1997.
PubMed ID : 9002680
- 4. Johnston, O.;
Kirby, V. V. :
- Syndactyly of the ring and little
finger. Am. J. Hum. Genet. 7:
80-82, 1955.
- 5. McKiernan, M. V.;
McCann, J. J. :
- Familial syndactyly type III--report
of a large pedigree. Clin.
Genet. 44: 270-271, 1993.
PubMed ID : 8313625
- 6. Opjordsmoen, S.;
Nyberg-Hansen, R. :
- Hereditary spastic paraplegia with
neurogenic bladder disturbances and
syndactyly. Acta Neurol.
Scand. 61: 35-41, 1980.
PubMed ID : 6249060
- 7. Temtamy, S. A.;
McKusick, V. A. :
- The Genetics of Hand
Malformations. New York: Alan R. Liss
(pub.) 1978.
CLINICAL
SYNOPSIS
View
Clinical Synopsis Entry
Victor A. McKusick - edited : 11/20/1997
Victor A. McKusick - updated : 2/12/1997
CREATION DATE
Victor A. McKusick : 6/2/1986
EDIT HISTORY
jenny : 11/20/1997
terry : 11/13/1997
terry : 2/12/1997
terry : 2/7/1997
mimadm : 5/10/1995
carol : 1/19/1994
supermim : 3/16/1992
supermim : 5/8/1990
supermim : 3/20/1990
ddp : 10/27/1989
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