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CLEFT HAND

Introduction

Cleft hand, also known as ectrodactyly, central ray deficiency, lobster-claw deformity, pincer-cleft deformity, crab-claw deformity, and split-hand malformation, refers to a rare group of congenital hand abnormalities in which the central bony elements of the hand are missing. These deformities are characterized by a variable expression in a wide range of clinical phenotypes, but generally include a deficiency of the central ray with narrowing or syndactyly of the adjacent digits, creating a cleft in the center of the hand. Cleft hand can result from a spontaneous mutation, autosomal dominant inheritance, an associated condition or possibly from teratogenic chemicals acting on the embryo.  This last potential cause has been support by laboratory studies., Cleft hand may lead to significant functional impairments depending on its severity. In cleft hand patients with satisfactory hand functionality and no desire for surgical correction, regular observation may be sufficient; however, surgery is commonly required for functional and/or cosmetic reasons.1-3  Surgical treatment should preferrably be performed at an early age before hand dominance and skilled hand function develops.

Pathophysiology

  • The leading theory on the pathophysiology of cleft hand holds that at Carnegie stage 22, there is a wedge-shaped deficiency in the central part of the apical ectodermal ridge due to the loss of function of certain genes expressed in that region. This causes a failure in the normal process of formation of bones and/or interdigital spaces, which leads to cleft hand3,4
  • All the abnormalities of cleft hand are believed to represent various degrees of severity of the same anomaly, suggesting the deformity may be due to an intrauterine vascular occlusion or insufficiency5
  • The cleft hand deficiency varies from absent long phalanges to absent individual fingers, to monodactyly, or even the absence of all fingers3  Cleft hand has also been categorized as part of the spectrum of symbrachydactyly.
  • The depth of the palmar cleft depends upon the remaining metacarpal bones, with a shallow cleft when they are present and a deep cleft when absent3
  • Cleft hand can follow an autosomal dominant inheritance pattern, result from a spontaneous mutation, or stem from one of many associated syndromes; inherited forms become more severe with each generation2
  • Deletions, inversions, and translocations of gene 7q have also been associated with cleft hand

Related Anatomy

  • Apical ectodermal ridge
  • Interdigital spaces
  • Metacarpals
  • Phalanges
  • First web space
  • Metacarpophalangeal (MP) joints
  • Interphalangeal (IP) joints
  • Classifying cleft hand is difficult due to its heterogeneity, but one of the more commonly-used classification systems is as follows:1,6
    • Type 1 (Typical)
      • Typical V-shaped clefting with presence of metacarpals
      • Typical crab clawing of the border digits
      • Bilateral
      • Involves feet
      • Associated with other developmental defects
      • Familial inheritance is common
  • Type 2 (Atypical)
    • Also known as symbrachydactyly
    • Atypical cleft that is often U- or wide U-shaped
    • Unilateral
    • Sporadic
    • Partial or complete absence of metacarpals
    • Hypoplastic thumb and little finger
    • Not associated with other syndromic manifestations
  • Type 3 (Nil-clefting)
    • All digits are absent1
    • The Manske and Halikis classification system is also frequently used:
      • Type I: Normal web, and thumb space is not narrowed
      • Type IIA: Mildly narrowed web, and thumb space is mildly narrowed
      • Type IIB: Severely narrowed web and thumb space is severely narrowed
      • Type III: Syndactylized web, thumb, and index rays, and the web space is obliterated
      • Type IV: Merged web, index ray is suppressed, and thumb web space is merged with the cleft
      • Type V: Absent web, thumb elements are suppressed, ulnar rays remain, and thumb web space no longer present6

Incidence and Related Conditions

  • The incidence of typical cleft hand is 1 in 90,000-120,000 births and 1 in 150,000-200,000 births for atypical cleft hand7
  • Symbrachydactyly
  • Ectrodactyly-ectodermal dysplasia-cleft (EEC) syndrome
  • Sensorineural hearing loss
  • Syndactyly, polydactyly, clinodactyly
  • Bony fusion
  • Anencephaly
  • Cleft lip/cleft palate
  • Scoliosis
  • Imperforate anus
  • Anonychia
  • Cataracts
  • Deafness
  • Hypoplasia or pseudoarthosis of clavicle
  • Absent pectoralis major muscle
  • Short humerus
  • Synostosis of elbow
  • Short forearm
  • Absent ulna
  • Radioulnar synostosis
  • Bilateral absence of tibia
  • Bilateral dislocation of hip
  • Short femur
  • Hypoplastic patella
  • Clubfoot
  • Calcaneovalgus
  • Deviated nasal septum
  • Congenital ptosis

Differential Diagnosis

  • EEC syndrome
  • Cornelia de Lange syndrome
  • Acrorenal syndrome
ICD-10 Codes

  • CLEFT HAND

    Diagnostic Guide Name

    CLEFT HAND

    ICD 10 Diagnosis, Single Code, Left Code, Right Code and Bilateral Code

    DIAGNOSISSINGLE CODE ONLYLEFTRIGHTBILATERAL (If Available)
    CLEFT HANDQ68.1   

    ICD-10 Reference

    Reproduced from the International statistical classification of diseases and related health problems, 10th revision, Fifth edition, 2016. Geneva, World Health Organization, 2016 https://apps.who.int/iris/handle/10665/246208

Clinical Presentation Photos and Related Diagrams
  • Cleft Hand, symbrachydactyly type with wide "U" shape and syndactyly of the radial digits (thumb and index) and camptodactyly of the ulnar digit
    Cleft Hand, symbrachydactyly type with wide "U" shape and syndactyly of the radial digits (thumb and index) and camptodactyly of the ulnar digit
Symptoms
Functional impairments of the hand
Cosmetic concerns
Psychiatric morbidity
Typical History

The typical patient is a 1-year-old girl born with a noticeable deformity of both hands in which a V-shaped cleft and missing middle digits have created the appearance of a claw-like appendage. The girl displayed similar deformities in her feet, as well as cleft lip and cleft palate. The girl’s mother reported that she also had similar deformities in her youth that had been corrected with surgery.

Positive Tests, Exams or Signs
Work-up Options
Images (X-Ray, MRI, etc.)
  • Cleft Hand X-Ray with central phalangeal, metacarpal and carpal insufficiencies and congenital fifth finger fusions.
    Cleft Hand X-Ray with central phalangeal, metacarpal and carpal insufficiencies and congenital fifth finger fusions.
Treatment Options
Treatment Goals
  • Maximize hand function and minimize deformity
Conservative
  • Evaluation by occupational therapist to assess function during activities of daily living.  This functional evaluation can be helpful even at an early age.
  • Observation
    • May be sufficient for patients with cleft hand and minimal or no major functional impairments 
Operative
  • The major indications for surgery are severe flexion contracture of ≥1 digits, a malpositioned index digit that interferes with function, tight syndactyly involving the thumb and index finger.  This deformity can cause major functional limitations of the hand.  The abnormal appearance of the hand and associated social stigmata may lead many parents to seek out surgery as well2
  • The goal of surgery should be to produce good pinching and grasping capabilities, followed by acceptable cosmesis8
  • Snow–Littler procedure
    • Commonly used to close the cleft and widen the first web space simultaneously
    • Requires meticulous technique and design to allow the cleft space flap to be properly transposed4 while the index finger is transposed to the long finger metacarpal basr.
  • Miura technique
    • A simpler design and technique versus the Snow-Littler procedure with less risk of flap necrosis4
  • Ostectomies =/- osteotomies with Z-plasty
    • Removes redundant, transverse or deforming bone segments or rudimentary digits that prohibit normal flexion and extension of intact digits
    • May be needed for challenging atypical cleft hands with hypoplastic thumb and/or little finger
  • Tendon transfer
    • If needed, should be delayed until the patient reaches 3 years of age3
  • Metatarsal osteotomy
    • May be needed after Z-plasty in atypical cases to improve grasp
  • Thumb and thumb web space reconstruction
    • Has greater priority over central cleft correction
    • Should not precede cleft closure, as it might compromise skin flaps
    • Web space deepening
    • Rotational osteotomy
    • Toe-hand transfer
  • Syndactyly release
  • Thumb adduction correction 
Complications
  • Infection
  • Ischemia
  • Compromised healing of skin flaps and/or flap necrosis
  • Wound dehiscence
  • Hematoma
  • Thumb instability
  • Progressive camptodactyly
  • Tightening of the first web space
  • Excessive length and radial deviation of the transposed index ray
Outcomes
  • Outcomes of cleft hand repair are generally acceptable and depend upon careful transposition of the index finger and restoration of adequate commissures in both the first web space and within the cleft2
  • The Snow-Littler procedure has demonstrated good pinch strength and appearance, but ischemia and compromised healing of the skin flaps have also been reported4
  • The Miura technique has demonstrated excellent long-term patient satisfaction in both function and appearance, with results similar to those from the Snow-Littler procedure, making it a reliable option for cleft hand closure and web space reconstruction4
Key Educational Points
  • If multiple surgeries are performed, syndactyly release should be performed first, with the border digits by 6 months to a year and central digits by 18 months to 2 years; after 6 months, the cleft should be closed, either alone or combined with correction of the thumb adduction deformity3
  • For cases of typical cleft hand, surgery is easier with cleft-closure, syndactyly release, thumb adduction correction, and removal of transverse or deforming bones1
  • Regardless of the type of cleft hand, management should begin at an early age to increase the chances of a good cosmetic and functional outcome3
  • Children with a complete, complex syndactyly involving the thumb and index rays can often function amazingly well and demonstrate hands that are “functional triumphs and aesthetic disasters”8
References

Cited

  1. Kundu SK, Roy H, Datta A. A case of atypical cleft hand - reported with ontogenetic review. J Clin Diagn Res2014;8(12):AD06-8. PMID: 25653934
  2. Sullivan MA, Adkinson JM. Congenital Hand Differences. Plast Surg Nurs 2016;36(2):84-9. PMID: 27254240
  3. Baba AN, Bhat YJ, Ahmed SM, Nazir A. Unilateral cleft hand with cleft foot. Int J Health Sci (Qassim)2009;3(2):243-6. PMID: 21475543
  4. Beck JD, Chang B, Jones NF. Over 20-year follow-up of Miura reconstruction of cleft hand. Hand (NY)2015;10(2):319-22. PMID: 26034452
  5. Nair SB, Mukundan G, Thomas R, Gopinathan KK. Ectrodactyly and prenatal diagnosis. J Obstet Gynaecol India2011;61(6):683-5. PMID: 23204691
  6. Manske PR, Halikis MN. Surgical classification of central deficiency according to the thumb web. J Hand Surg Am1995;20(4):687-97. PMID: 7594304
  7. Temtamy SA, McKusick VA. The genetics of hand malformations. Birth Defects Orig Artic Ser 1978;14(3):1-619. PMID: 215242
  8. Upton J, Taghinia AH. Correction of the typical cleft hand. J Hand Surg Am 2010;35(3):480-5. PMID: 20138711

New Articles

  1. Sullivan MA, Adkinson JM. Congenital Hand Differences. Plast Surg Nurs 2016;36(2):84-9. PMID: 27254240
  2. Beck JD, Chang B, Jones NF. Over 20-year follow-up of Miura reconstruction of cleft hand. Hand (NY)2015;10(2):319-22. PMID: 26034452

Reviews

  1. Upton J, Taghinia AH. Correction of the typical cleft hand. J Hand Surg Am 2010;35(3):480-5. PMID: 20138711

Classics

  1. Rolleston JD. Case of Ectrodactyly. Proc R Soc Med 1915;8:86-8. PMID: 19979059
  2. MacKenzie HJ, Penrose LS. Two pedigrees of ectrodactyly. Ann Eugen 1951;16(1):88-96. PMID: 24541402
  3. Katarincic JA. Cleft Hand. J Hand Surg Am 2003; 3(2): 108-116.
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