Home > F. Pathology by regions > Limbs > ectrodactyly

ectrodactyly

MIM.225300

Tuesday 31 August 2004

Split-hand/split-foot malformation (SHFM) is a limb malformation involving the central rays of the autopod and presenting with syndactyly, median clefts of the hands and feet, and aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals.

Split hand or cleft hand results from a longitudinal deficiency of the central digits. Two types exist (typical and atypical), probably related to 2 different etiologies: typical cleft hand probably results from fusion of digits, atypical cleft is probably caused by necrosis secondary to a vascular insult.

Types

- typical cleft hand (1/90000 live births)

  • deep and "V" shape central defect
  • Syndactyly commonly affects the residual fingers. The anomaly is often bilateral and affects also frequently the feet.
  • The transmission is X-linked dominant with incomplete penetrance.
  • Typical cleft hand can be isolated, or associated with other anomalies (cleft lip or palate, absent ulna, etc.) or syndromes (Roberts syndrome, split hand-foot syndrome) (Fig 22).

- atypical cleft hand

  • The rarer atypical cleft hand (1/150000 live births) has a wider "U"-shaped deformation. The anomaly is often unilateral, and beside brachysyndactyly, is usually isolated.
  • The Poland syndrome can be associated with this type of ectrodactyly.

- monodactylous ectrodactyly
- bidactylous ectrodactyly
- tridactylous ectrodactyly
- biectrodactyly
- tetraectrodactyly

Etiology

Five loci for isolated SHFM (nonsyndromal SHFM) have been mapped.

- SHFM1 at 7q21-7q22: DSS1 gene
- SHFM2 (MIM.313350) at Xq26
- SHFM3 (MIM.600095) at 10q24-q25
- SHFM4 (MIM.605289) at 3q27: TP63 gene (MIM.603273)
- SHFM5 (MIM.606708) on 2q31.

Associations (syndromal SHFM)

- ectodermal dysplasia-ectrodactyly syndromes

  • EEM syndrome (ectodermal dyslasia, ectrodactyly and macular dystrophy) (MIM.225280)
  • EEC syndromes (ectrodactyly, ectodermal dysplasia and cleft lip/palate) (MIM.129830) (MIM.129900) (7939823)
    • EEC1 at 7q11.2-q21.3 (MIM.129900)
    • EEC2 at Chr.19 (MIM.602077)
    • EEC3 at 3q27 (MIM.604292)

- palate cleft-ectrodactyly association syndrome
- deafness (MIM.605617)
- bilateral tibial agenesis with ectrodactyly (MIM.119100) (tibial aplasia)
- Roberts syndrome (177235)
- Smith-Lemli-Opitz syndrome (9475598)
- unilateral bifid femur with monodactylous ectrodactyly (MIM.228250)
- brachydactyly-ectrodactyly with fibular aplasia or fibular hypoplasia (MIM.113310)
- cleft palate, cardiac defect, genital anomalies and ectrodactyly (MIM.600460)
- anonychia-ectrodactyly
- ectrodactyly-polydactyly
- autosomal recessive acrorenal syndrome (tetraectrodactyly and oligomeganephronic renal hypoplasia)
- association ectrodactyly-distal phocomelia (12416640, 8740915)
- association ectrodactyly-Wolf-Hirschhorn syndrome (9482640)
- association bifid femur-monodactylous ectrodactyly (7468656)
- association ectrodactyly-tibial hemimelia or tibial aplasia-ectrodactyly syndrome (Gollop-Wolfgang complex) (10340652, 8723107)
- association ectrodactyly-proximal femoral focal deficiency (9217221)
- association ectrodactyly-ectodermal dysplasia and ventricular septal defect (7939823)
- association monodactylous ectrodactyly-bifid femur (7468656)
- pentalogy of Cantrell (17154221)

Cytogenetics

- 6q16 deletion (8766142)
- 6q21 deletion (7726229)
- 7q22 deletion (SHFM1 locus at 7q21) (1741973)
- trisomy 18 (8172239)

Differential diagnosis

- oligodactyly (reduced number of well formed fingers)
- constrictive bands

Case records

- Case 10516: Ectrodactyly with sirenomelia
- Case 12772: Ectrodactyly with cardiac malformations

Reviews

- Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet. 2003 Apr 1;12 Spec No 1:R51-60. PMID: 12668597

References

- Chen CP, Hsu CY, Tzen CY, Chern SR, Wang W. Prenatal diagnosis of pentalogy of Cantrell associated with hypoplasia of the right upper limb and ectrodactyly. Prenat Diagn. 2007 Jan;27(1):86-7. PMID: 17154221

Portfolio

  • Familial foot ectrodactyly
  • Hand ectrodactyly
  • Hand ectrodactyly
  • Hand ectrodactyly
  • Foot ectrodactyly
  • Tetraectrodactyly in a fetus
  • Ectrodactyly
  • Ectrodactyly with sirenomelia
  • Ectrodactyly
  • Ectrodactyly
  • Ectrodactyly with cardiac malformation (case 12772)
  • Ectrodactyly with cardiac malformation (case 12772)
  • Ectrodactyly with cardiac malformation (case 12772)
  • Ectrodactyly with cardiac malformation (case 12772)