Aplasia of tibia with ectrodactyly, tibial aplasia with split-hand/split-foot deformity, etrodactyly with aplasia of long bones, split-hand/foot malformation with long bone deficiency, SHFLD[1]
Ectrodactyly with tibia aplasia/hypoplasia also known as cleft hand absent tibia is a very rare limb malformation syndrome which is characterized by ectrodactyly, and aplasia/hypoplasia of the tibia bone. Additional findings include cup-shaped ears, pre-postaxial polydactyly, and hypoplasia of the big toes, femur, patella, andulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance.[2][3][4]
Etymology
This disorder was first discovered in 1967, by Roberts et al. when he described a four-generation family with absence of the middle finger and missing tibia bones. Since then, 9 more families with the disorder have been described, leaving us with a total of 10 families worldwide known to medical literature with the disorder.[5]
The following loci are associated with the different types of SHFLD: 1q42.2-43 (SHFLD1), 6q14.1 (SHFLD2), and 17p13.3 (SHFLD3).[6] The mutations in the loci were found when the entire genome of a large Arab consanguineous family was analyzed.[7][8]
^Bissonnette, Bruno; Luginbuehl, Igor; Marciniak, Bruno; Dalens, Bernard J. (2006), "Cleft Hand and Absent Tibia Syndrome", Syndromes: Rapid Recognition and Perioperative Implications, New York, NY: The McGraw-Hill Companies, retrieved 2022-05-13
^Bissonnette, Bruno; Luginbuehl, Igor; Engelhardt, Thomas (2019), "Cleft Hand and Absent Tibia Syndrome", Syndromes: Rapid Recognition and Perioperative Implications (2 ed.), New York, NY: McGraw-Hill Education, retrieved 2022-05-13
