Ectrodactyly with tibia aplasia/hypoplasia
Medical condition
From Wikipedia, the free encyclopedia
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, and ulnae bone. It is inherited as an autosomal dominant trait with reduced penetrance.[2][3][4]
| Ectrodactyly with tibia aplasia/hypoplasia | |
|---|---|
| Other names | 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] |
| Specialty | Medical genetics, Pediatry |
| Symptoms | Ectrodactyly with missing/underdeveloped tibia. |
| Complications | Grip (ectrodactyly), walking (tibia abnormality) |
| Usual onset | Pre-natal |
| Duration | Life-long |
| Types | SHFLD1, 2 and 3 |
| Causes | Genetic mutation |
| Risk factors | Having close relatives with the disorder |
| Diagnostic method | Physical evaluation, radiography |
| Prevention | none |
| Prognosis | Good |
| Frequency | very rare. |
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]
