Journal of Postgraduate Medicine Medknow Publications and Staff Society of Seth GS Medical College and KEM Hospital, Mumbai, India ISSN: 0022-3859 EISSN: 0972-2823 Vol. 48, Num. 3, 2002, pp. 209-210

Journal of Postgraduate Medicine, Vol. 48, Issue 3, 2002 pp. 209-210

Split Hand-Foot Malformation: A Congenital Central Limb Ray Deficiency

Thami GP, Kaur S

Department of Dermatology and Venereology, Government Medical College and Hospital, Sector 32, Chandigarh, India.
Address for Correspondence: G. P. Thami, MD, Department of Dermatology and Venereology, Government Medical College and Hospital, Sector 32 B, Chandigarh - 160 030, India. E-Mail: drgurvinder@mantraonline.com

Code Number: jp02071

A thirty five-year-old male had deformed hands and feet since birth. His growth, development and general health were unaffected except for his short stature (height-one hundred and thirty cms.) in comparison to other family members. There was no history of consanguinity, or mutagenic exposure in the mother during the antenatal period and there was no family history of similar deformity. Examination revealed bifid hands with two digits each and right and left foot with two and three toes respectively (Figure 1 and 2). Radiological examination of the hands revealed bilateral complete absence of second, third and fourth digital rays, presence of two carpal bones on the right side and only one carpal bone on the left side along with hypoplasia of radius and ulna and subluxation of inferior radio-ulnar and radio-carpal joints. X-ray feet showed absence of three lateral rays on right side and two lateral rays on left side, presence of calcaneum on the right side and calcaneum and talus on the left side, hypoplasia of phalanges and absence of both fibulae.

X-rays of chest, spine and skull were normal. Examination of teeth, hair, nails, mucosae and eye did not reveal any abnormality. A skin biopsy showed normal sweat glands.

Discussion

Split hand/foot malformation (SHFM) results from failure of formation of parts of hands, feet or both due to a variable deficiency of central rays of the autopad.¹ Previously known variably as split hand/foot, lobster claw or ectrodactyly, the most acceptable term nowadays is `congenital central limb ray deficiency.¹ Inherited as an autosomal dominant trait, both sporadic and familial cases have been described.^2,3 Usual clinical manifestations include presence of congenital syndactyly, median clefts of hands and feet, along with hypoplasia or aplasia of carpal, tarsal, metacarpal, metatarsal and phalangeal bones.^4,5 In milder forms there is partial or incomplete deficiency leading to absence of middle fingers or toes while severe forms may leave a two-digit or even a one-digit hand. Feet are less commonly involved and bilateral involvement of hands and feet is often associated with positive family history.^3,4 There is considerable phenotypic overlap with EEC (ectrodactyly, ectodermal dysplasia, cleft lip/palate) syndrome, in which besides limb malformations, there is cleft lip and palate, lacrimal duct atresia and ectodermal defects involving skin, hair, teeth and nails.⁶ A similar overlap has been observed in Adams-Oliver syndrome with associated defects of calvarium and scalp.⁵ Ectrodactyly alone may also be associated with focal dermal hypoplasia.⁵

SHFM also has a phenotypic animal analogue in naturally occurring murine Dactylaplasia mutant (Dac). Recent gene-targeting studies have traced SHFM to be a mutation in p-63 gene, regulating the formation and differentiation of apical ectodermal ridge through a cell-cycle regulator TP-53.⁵ Studies of families showing SHFM as an autosomal dominant disorder has established the presence of SHFM locus on 10q24-q25.

Most patients need no surgical intervention, as there is no functional problem except for the unsightly appearance of the malformation causing cosmetic embarrassment especially in childhood.

References

1. Reed MH, Genez B. Hands. In: Reed MH, editor. Pediatric Skeletal Radiology. Baltimore: Williams and Wilkins; 1992. p. 584-625.
2. Parkash H, Grewal MS, Sidhu SS. Ectrodactyly, ectodermal dysplasia, cleft lip and palate (EEC) a rare syndrome. Ind J Pediatr 1983;50: 337-40.
3. Hoyme HE, Jones KL, Nyhan WL, Pauli RM, Robinow M. Autosomal dominant ectrodactyly and absence of long bones of upper or lower limbs: Further clinical delineation. J Pediatr 1987;111:538-43.
4. Sener RN, Sayli BS, Isikan UE, Ormeci AR, Unsal M, Tigdemir M.Tetra-oligodactyly with bilateral aplasia and hypoplasia of long bones of upper and lower limbs: a variable manifestation of the syndrome of ectrodactyly with tibial aplasia. Pediatr Radiol 1990;21: 57-61.
5. Ianakiev P, Kilpatrick MW, Toudijarska I, Basel D, Beighton P, Tsipouras P. Split - Hand/Split Foot malformation is caused by mutations in the p 63 gene on 3q27. Am J Hum Genet 2000;67:59-66.
6. Jones KL, editor. Smith's recognizable patterns of human malformation. 5th edition Philadelphia: WB Saunders Company; 1997. p. 294-5.

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