Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot)

Cleft hand or split hand foot malformation 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 fee...

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Bibliographic Details
Published inThe Journal of hand surgery, European volume Vol. 44; no. 1; p. 80
Main Authors Guero, Stéphane, Holder-Espinasse, Muriel
Format Journal Article
LanguageEnglish
Published England 01.01.2019
Subjects
Humans
Limb Deformities, Congenital - classification
Limb Deformities, Congenital - genetics
Limb Deformities, Congenital - surgery
Muscle, Skeletal - abnormalities
Orthopedic Procedures - methods
Tendons - abnormalities
cleft hand
split hand foot malformation
congenital
classification
Hand
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Summary:Cleft hand or split hand foot malformation 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 mostly autosomal dominant but sporadic cases without family history 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 split hand foot malformation have been identified 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 outcome.
ISSN:2043-6289
DOI:10.1177/1753193418807375