Syndactylies

Prevalence: 3 to 10 /10,000 births. Malformation of fingers and/or toes that are totally or partly fused (due, for example, to a disorder of physiological apoptosis of the interdigital skin) during the formation of the extremities. The toes are more frequently affected than fingers, and  boys twice more often than girls. There are  so-called syndromic forms (associated with a syndrome such as Apert syndrome, for example) or isolated. Several classifications have been described.

The simplest is one that describes the following forms:

-        preaxial: when the radial ray (or the side of the big toe) is affected

-        mesoaxial: when the middle part of the extremity is involved

-        postaxial: when the ulnar ray (or the side of the little toe) is involved

-        and total

A fuller and more complex of isolated syndactylies classification is that of Temtamy-McKusick recently extended and adapted to the new data of molecular genetics (see figures).



type

MIM

fingers

toes

transmission

locus

I has

ZD1 zygodactyly

609 815

NL

2 and 3

AD

3p21.31

I b

SD1 Lueken

185 900

3 and 4, skin

2 and 3, skin

AD

2q34-q36

I c

Montagu


3 and 4, skin and bone

NL

AD


I d

Castilla


NL

4 and 5, skin

AD ?


II

SPD1 Vordingborg

186 000

mesoaxial SPD (3 and 4)

Postaxial SPD

(4 and 5)

AD

2q31 (HOXD13)

IIb

SPD2 Debeer

608 180

SPD central and postaxial

postaxial

AD

22q13.3 (FBLN1)

IIc

SPD3 Malik

610 234

central SPD

postaxial SPD

AD

14q11.2-q13

III

SDTY3; ODDD;

Johnson-Kirby

186 100

4-5,

5th short finger

NL

AD

6q21-q23 (GJA1)

IV

SDTY4 Haas

186 200

all fingers, polydactyly pre and postaxial

NL

AD

7q36 (LMBR1)

IV b

Andersen-Hansen


webbing and all fingers, pre polydactyly postaxial

variable webbing and polydactyly

AD


V

SDTY5; Dowd

186 300

4/5 with fusion hypoplastic metacarpals

mesoaxial

AD

2q31 (HOWD13)

VI

Mitten


2/5

2/5

AD


VII

Cenani-Lenz

hands in spoon

212 780

bone syndactyly complete with fusion of the metacarpals

bone syndactyly complete with fusion of the metatarsals

AR

11p12-p11.2 (LRP4)

VII b

oligodactyly


little distortion

variable syndactyly

AD

15q13.3 (GREM1-FMN1)

VIIIa

Orel-Holmes

309 630

4/5 fusion metacarpals

NL

XR


VIIIb

LERCH


4/5 fusion metacarpals

NL

AD


IX

MSSD Malik-Daudi

609 432

mesoaxial synostosis with phalangeal reduction

preaxial webbing with phalangeal hypoplasia

AR

17p13.3


SPD = synpolydactyly = association of syndactyly and a polydactyly

AD = autosomal dominant, AR = autosomale recessive, X = X-linked

NL = normal  SPD = SynPolyDactyly





Anesthetic implications:

check for associated anomalies, anticipate difficult peripheral venous access .


References :  

-        Malik S. 
Syndactyly : phenotypes, genetics and current classification. 
Eur J Human Genet 2012 ; 20 : 817-24


Updated: June 2015