Split-Hand/Foot Malformation with Long Bone Deficiency 2

Alternative Names

  • SHFLD2
  • Cleft Hand and Absent Tibia
  • Aplasia of Tibia with Ectrodactyly
  • Ectrodactyly with Aplasia of Long Bones
  • Tibial Aplasia with Split-Hand/Split Foot Deformity
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WHO-ICD-10 version:2010

Congenital malformations, deformations and chromosomal abnormalities

Congenital malformations and deformations of the musculoskeletal system

OMIM Number

610685

Mode of Inheritance

Autosomal dominant with reduced penetrance.

Gene Map Locus

6q14.1

Description

Split-Hand/Foot Malformation with Long Bone Deficiency (SHFLD) is a rare and severe limb deformity of variable clinical manifestations. The signs and symptoms may range from virtually no malformation to ectrodactyly and tibial hypoplasia or aplasia with or without associated anomalies. The incidence of SHFLD is estimated to be 1:1,000,000 live births.

Molecular Genetics

Families with SHFLD have been reported with autosomal dominant, recessive, and sporadic forms of inheritance. SHFLD2 has been mapped to the locus 6q14.1.

Epidemiology in the Arab World

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Other Reports

United Arab Emirates

Naveed et al. (2007) presented genome wide linkage analysis of one large multigenerational UAE family with SHFLD. The majority of the family members were residing in the UAE and a few in Oman. Of the 145 individuals in the family, 14 males and nine females showed an abnormal phenotype, ranging from mild to severe defects involving upper and lower limbs. The nine affected patients included in the linkage study all had severe tibial aplasia, some with additional findings of split hand/foot, syndactyly, hypoplastic big toes, absence of middle phalanges of some toes, hypoplastic tibiae, and beaked nose. Naveed et al. (2007) identified novel genomic regions on 1q42.13-q43 and 6q14.1 harboring high-risk variants for SHFLD in the studied family. 

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