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S. N. Oishi and T. Beckwith
As discussed above, Type A ulnar polydactyly
can present as many as different phenotypes and
each patient must be individually assessed for
reconstruction. In particular, symmetry may not
exist between hands and/or between hands and
feet. A single patient may have a combination of
Types A and B polydactylous digits or different
types of Type A.It is important for the parents to
understand the difference between Types A and
B, as many times decreased motion and stability
will exist in the little nger after the reconstruction of Type A variants. In addition, many times
this digit is also hypoplastic when compared to a
normal little nger. Except in rare instances, surgery should be performed after a year of age
because of the potential anesthesia consequences
that can occur as well as size of structures.
Reconstruction can be very complex in these
patients and can include osteotomy, ligament
reconstruction, and tendon realignment. Pin xation is often required as well as cast immobilization for a much longer time as compared to Type
B reconstruction (Figs.10.5 and 10.6).
In conclusion, ulnar polydactyly is frequently
encountered in a pediatric hand surgery practice.
Appropriate assessment is key to optimal
reconstruction in these patients. In patients with
Type A ulnar polydactyly, a high degree of
suspicion for associated anomalies (syndromes)
is mandatory with appropriate further testing and
referrals as indicated. After reconstruction Type
B ulnar polydactyly patients will have nearnormal function, whereas Type A ulnar polydactyly patients may not. Proper counseling of
parents is mandatory to assure realistic goals and
expectations are agreed upon.
Fig. 10.5 Example of Type A (Type 4) postaxial polydactyly. (a–c) Preoperative clinical photographs and
radiographs. Note the well-developed digit with shared
metacarpal. Reconstruction of this digit involves reconstruction of the collateral ligament and hypothenar muscle
insertion as well as metacarpal head chondroplasty for
optimum outcome. In addition, exor and extensor tendon
anatomy must be assessed. (d, e) After reconstruction is
performed. Note the pin to stabilize the ligamentous
reconstruction
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c
d
e
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S. N. Oishi and T. Beckwith
c
d
e
Fig. 10.6 Example of Type A postaxial (Type 2) polydactyly. (a–e) Preoperative clinical photographs and
radiographs. Successful reconstruction requires extensor
and exor tendon assessment, collateral ligament reconstruction and intermetacarpal ligament reconstruction.
Note that the reconstructed little nger is hypoplastic
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References
1. Staff TSRH.Disorders of the upper extremity: ulnar
polydactyly. In: Herring J, editor. Tachdjians pediatric
orthopedics: from the Texas Scottish rite hospital for
children. 4th ed. Philadelphia, PA: Elsevier Saunders;
2008. p.556–8.
2. Temtamy SA, McKusick VA. The genetics of
hand malformations. Birth Defects Orig Artic Ser.
1978;14(3):i–xviii, 1–619. Epub 1978/01/01.
3. Watson BT, Hennrikus WL.Postaxial type-B polydactyly. Prevalence and treatment. J Bone Joint Surg Am.
1997;79(1):65–8. Epub 1997/01/01
4. Woolf CM, Myrianthopoulos NC. Polydactyly in
American negroes and whites. Am J Hum Genet.
1973;25(4):397–404. Epub 1973/07/01
5. Umm-e-Kalsoom, Basit S, Kamran-ul-Hassan Naqvi
S, Ansar M, Ahmad W. Genetic mapping of an autosomal recessive postaxial polydactyly type A to chromosome 13q13.3-q21.2 and screening of the candidate
genes. Human genetics. 2012;131(3):415–22. Epub
2011/08/31
6. Pritsch T, Ezaki M, Mills J, Oishi SN.Type A ulnar
polydactyly of the hand: a classication system and
clinical series. J Hand Surg Am. 2013;38(3):453–8.
Epub 2013/02/23
7. Mills JK, Ezaki M, Oishi SN. Ulnar polydactyly: long-term outcomes and cost-effectiveness of
surgical clip application in the newborn. Clin Pediatr.
2014;53(5):470–3. Epub 2013/12/19
Cleft Hand or Split Hand Foot
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Malformation
StéfaneGuéro
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Abstract
Cleft Hand or Split Hand Foot Malformation
(SHFM) is a sequence of phenotypes, from a
minor shortening of the central digit to a complete absence of the third ray and, in the most
severe cases, absence of two, three or four
rays. It is a rare but spectacular presentation
usually involving both hands and feet.
Inheritance is primarily autosomal dominant
but sporadic cases are also reported, resulting
from a de novo mutation/deletion/duplication.
Intra-familial clinical variability is the rule,
with incomplete penetrance. X-linked or autosomal recessive inheritance has also been
described. To date, seven subgroups of SHFM
have been identied and seven loci are currently known. Anatomical records have
enhanced our knowledge of this group of disorders of the hands and feet and allowed us to
improve surgical procedures and long-term
outcomes.
Keywords
Hand · Cleft hand · SHFM · Classication
Congenital
S. Guéro (*)
Institut de la Main, Paris, France
Paediatric Orthopaedic Unit, Hôpital Necker Enfants
Malades, Université Paris Sorbonne-centre,
Paris, France
11.1 Denition
Split hand foot malformations (SHFM) are complex congenital malformations, fortunately rare,
most often of familial origin and of autosomal
dominant inheritance. This spectacular presentation usually involves both hands and feet. SHFM
is a sequence of phenotypes, from a minor shortening of the central digit to a complete absence of
the third ray and, in the most severe cases,
absence of two, three or four rays. The condition
was rst described by Isidore Geoffroy SaintHilaire (1832) [1] who gave the name ectrodactyly which is still used today. Many authors have
described this malformation using terminology
such as ‘claw hand’, ‘lobster hand’ or even
‘lobster- claw hand’ [2]; these may be descriptive
terms but they are insulting to the children and
should not be used anymore. Cleft hand is acceptable but we denitely prefer split hand foot malformation as it is shared with the Geneticists.
11.2 Incidence
The incidence has been reported by Adrian Flatt
(1994) as 3.9% in his series of congenital hand
anomalies [3]. However, the reported incidence
varies greatly since confusion with symbrachydactyly remains. In the most recent publications,
the incidence of SHFM varies from 1/8500 to
1/90000 living births, accounting for up to 15%
© Springer Nature Switzerland AG 2023
G. Pajardi (ed.), Pediatric Hand Surgery, https://doi.org/10.1007/978-3-031-30984-7_11
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S. Guéro
of all limb defects, depending on the terminology
and whether the patients were seen by surgeons
or clinical geneticists [4].
11.3 Clinical Presentation
The typical presentation of split hand is a bilateral deep, central cleft of the hands (Fig.11.1a,
b), but often with asymmetrical malformations.
Adjacent ngers are usually abnormal, broad,
deviated or rotated toward the cleft. Split hand
cannot be summarized as a simple cleft as
additional embryological disorders such as syndactyly, camptodactyly, clinodactyly with or
without delta phalanges can be encountered [5].
Fusion and duplication of rays and some transverse bones, so-called ‘cross bones’ are also very
specic to SHFM [6]. Feet are also often involved,
without any correlation with the hand presentation (Fig.11.2).
Typically, the deformity involves the four
extremities but, on average, malformations of the
hands are asymmetrical. Affections of the upper
limb are sometimes very different from those of
the lower limb, which is explained embryologically by the time lag between the appearance of
the buds of the upper limb and inferior. It is thus
possible to observe on the hands a median cleft
and on the lower limb a central polydactyly. We
Fig. 11.2 Foot anomalies. Divergence of the rst and
fth toe is the rule. Impairment of the shoe bearing comes
very early, requiring the closure of the cleft with multiple
metatarsal or phalanges osteotomies
Fig. 11.1 SHFM, right hand. (a) Dorsal view of a SHFM with a moderate syndactyly of the rst web. (b) palmar view
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will come back to this notion in the classication
chapter.
Sometimes there is cleft located on the fourth
space; these cases are even more exceptional, but
we will treat them in this chapter because they
show similar problems, and their treatment follows the same principle.
It is true that the extremely ‘bizarre’ aspect of
the hands or feet has a considerable psychological impact, and one of the rst goals of the treatment should be to ‘normalize’ the overall
appearance of the hand and feet. But in some
severe and complex forms it is not even possible
to plan a surgical correction. In congenital hand
specialist meetings, most of the cases requiring
discussion are SHFM.
11.3.1 Distinction Between True
andFalse Median Clefts
The rst classication proposed by Barsky (1964)
[7] was an attempt to clarify the differences
between ‘typical’ cleft hand and symbrachydactyly (atypical cleft hands). He described typical
cleft hand as usually involving the third ray, bilateral and following an autosomal dominant inheritance pattern. There are also unilateral forms
where the cleft is shown only on one hand, and
these cases produce confusion with symbrachydactyly type 2 or 3 of Blauth’s classication [8]
modied by Foucher [9]. Anyway, the morphological differences between the typical cleft hand
(SHFM) and the atypical cleft hand– which are
symbrachydactylies [10]—have now been clearly
established: (1) In the symbrachydactyly, the
‘cleft’ is U-shaped, whereas in the typical cleft, it
is V-shaped. (2) If the malformation is unilateral
and therefore does not involve the other limbs, it
cannot be assessed as cleft. (3) In the monodactylous type of symbrachydactyly, the thumb is
absent, and the fth ray is present. All these characteristics are therefore opposed to the typical
cleft hands (see Table 11.1). Diagnosis between
typical and atypical types is usually straightforward for a hand surgeon trained in congenital
anomalies [10]. This has not a simple connotation
of classication interest, but the identity gives us
Table 11.1 Differences between typical cleft hand and
symbrachydactyly (atypical cleft hand) according to
Barsky. (Republished from J Hand Surg Eur Vol, 2019)
Cleft hand Symbrachydactyly
Rays involve 3rd ray Three central
Monodactylous
hand
Upper limb Bilateral Unilateral
Transmission Dominant
Central defect V shape U shape
Feet involvement Ye s No
Syndactylies Frequent Less frequent
Associated
anomalies
5th Thumb
inheritance
Yes No
digits
No inheritance
indication to direct parents to genetic counselling.
Indeed, a child with typical familial cleft hand or
a cleft by de novo mutation has a high possibility
to transmit this condition to the 50% of his
descents, on the contrary symbrachydactylies are
nonhereditary, probably teratological (viral?), and
the approach for the relatives is completely different and more reassuring.
11.4 Inheritance
SHFM can be inherited or sporadic. Inheritance
is mostly autosomal dominant with intra-familial
clinical variability but X-linked and autosomal
recessive forms have been reported. Sporadic
cases can be caused by de novo mutation/chromosome imbalances.
SHFM can be isolated and associated with
some malformations or part of a syndrome. The
most frequent syndromes are EEC (EctrodactylyEctodermal dysplasia-Cleft lip and palate), LADD
(Lacrimo-Auriculo-Dento-Digital), ADULT
(Acro-Dermato-Ungual-Lacrimal-Tooth),
CHARGE (Coloboma-Heart defect, Atresia choanae, Retarded growth and development- Genital
hypoplasia-Ear), VACTERL (Vertebral-AnalCardiac-Tracheal-Esophageal- Renal-Limb
defects), Cornelia de Lange [11, 12] and Smith–
Lemli–Opitz [13]. Some rare cases of SHFM have
been ascribed to teratogens, particularly after
exposure to retinoic acid.
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11.5 Genetic Classication
More recently, different aetiologies and subgroups of SHFM have been highlighted [14],
based on genetic data. Sowinska-Seidler et al.
[15] summarized the underlying genetics mechanisms. Indeed, seven subgroups have been
identied as follows: SHFM1 at 7q21.2q22.1
(DLX5 gene), SHFM2 at Xq26, SHFM3 at
10q24q25, SHFM4 at 3q27 (TP63 gene), SHFM5
at 2q31 and SHFM6 as a result of variants in
WNT10B (chromosome 12q13). Duplications at
17p13.3 are seen in SHFM7 when isolated or
associated with long bone deciency. As previously stated above, most cases of SHFM are following an autosomal dominant pattern of
inheritance (types 1, 3, 4, 5 and 7), but autosomal
recessive (type 1 and 6) and X-linked inheritance
(type 2) have also been reported. SHFM can be
identied as an isolated nding but can also be
associated with other malformations or be part of
a syndromic association. Genetic heterogeneity
and clinical variability, even between individuals
from the same family, is the rule. Incomplete
penetrance is also quite common, which leads to
difcult genetic counselling. We have summarized the different types in Table 11.2 [16],
according to Sowinska-Seidler etal. SHFM1 can
appear as isolated, associated with other malformations or syndromic. It is most commonly autosomal dominant and associated with deafness
(35%) or ectodermal dysplasia. Autosomal recessive SHFM1 has also been reported in association with homozygous mutations within the
DLX5 gene. SHFM2 is the only X-linked form of
SHFM and to date the underlying molecular
mechanism is unknown, although there are two
potential candidate genes (FGF13 and TONDU).
SHFM3 is the most frequent form of SHFM
(with SHFM7). It is autosomal dominant and
non-syndromic but can be associated with preaxial ray anomalies such as polydactyly or triphalangeal thumbs. SHFM4 is also autosomal
dominant and linked with variants within the
TP63 gene (Fig. 11.3a–d). It can be isolated or
part of EEC syndrome. SHFM5 is due to deletions encompassing the entire HOXD gene cluster. However, the phenotype is unclear
(synpolydactyly/Split foot) as well as the pathogenesis. SHFM6 is following an autosomal reces-
Table 11.2 Different SHFM subgroups with their molecular and clinical characteristics
AD autosomal dominant, ADULT acro-dermato-ungual-lacrymal-tooth syndrome, AR autosomal recessive, EEC ectrodactyly-ecto-dermal dysplasis-cleft lip/plate, MR mental retardation, ND no data, SHFLD split hand foot and long bone
decience, SHFM split hand foot malformation, DR X-linked recessive
Guero, S. and M.Holder-Espinasse, Insights into the pathogenesis and treatment of split/hand foot malformation (cleft
hand/foot). J Hand Surg Eur Vol, 2019. 44(1): p.80–87
ab
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sive mode of inheritance linked with homozygous
mutations in the WNT10B gene. It is very rare
and apparently isolated. SHFM7 is either isolated
or associated with long bone deciency. It is due
to chromosome 17p13.3 duplication comprising
the BHLHA9 gene. Incomplete penetrance and
sex bias have been commonly reported in this
particular group. When a patient is seen in a
Clinical Genetics setting, array CGH should be
offered as a baseline test. This would very likely
identify a chromosome 10q24 or 17p13 duplication is around 50% of cases (SHFM types 3 and
7). If negative, we would recommend TP63 gene
molecular testing, as this will identify SHFM
type 4 in 10% of cases. If no underlying explanation is found at this stage, a karyotype should be
offered to test for deletion/translocation involving chromosome 7 (SHFM type 1). Then, if
inheritance appears to be autosomal recessive,
molecular testing of WNT10 and/or DLX5 genes
is relevant (SHFM types 1 and 6). An underlying
explanation is currently identied in approximately 50–60% of cases therefore more loci are
likely to be identied in the future. Whole-exome
sequencing and whole genome sequencing on a
research basis are obviously relevant, but since
c
Fig. 11.3 Three members of a family with a SHFM type
4, with mutation on TP63, severe cleft hand and cleft foot,
cleft palate and lip. (a) Right hand of the father. (b) Right
hand of the son with a complete and complex syndactyly
of the thumb and index. (c) X-ray of the son’s right hand
showing the bony fusions. (d) X-ray of the daughter’s
right hand. Tridactylous hand with absence of the index
nger and superdigit on the ‘fourth nger’
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d
Fig. 11.3 (continued)
complex non-coding regulatory elements are
involved in such malformations, other pathways
need to be explored as well. The Department of
Genetic Research of the Necker-Enfant Malades
Hospital in Paris has recently reviewed the data
of 22 patients with SHFM.A mutation was identied in only 50% of the children. The most frequent (n=4), was on TP63 (type 4), one patient
had a deletion on HOXD13 (type 5), another
deletion was found in 7q21 (type1) one on
BHLHA9 (type 7). In ve patients, a chromosomal rearrangement was found on chromosome
10 (type 3) but the gene involved has not been
identied to date.
11.5.1 Embryological Hypothesis
Whatever the genetic mutation, the precise pathogenetic processes leading to phenotypic disrup-
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