Ectrodactyly with tibia aplasia/hypoplasia
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
editThis 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]
References
edit- ^ "Cleft hand absent tibia". 16 June 2022.
- ^ "Tibial aplasia and ectrodactyly syndrome (Concept Id: C4551989) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-05-13.
- ^ "Cleft hand absent tibia - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-05-13.
- ^ 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
- ^ "OMIM Entry - % 119100 - SPLIT-HAND/FOOT MALFORMATION WITH LONG BONE DEFICIENCY 1; SHFLD1". omim.org. 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
- ^ Naveed, Mohammed; Al-Ali, Mahmoud T.; Murthy, Sabita K.; Al-Hajali, Sarah; Al-Khaja, Najib; Deutsch, Samuel; Bottani, Armand; Antonarakis, Stylianos E.; Nath, Swapan K.; Radhakrishna, Uppala (2006-07-01). "Ectrodactyly with aplasia of long bones (OMIM; 119100) in a large inbred Arab family with an apparent autosomal dominant inheritance and reduced penetrance: clinical and genetic analysis". American Journal of Medical Genetics. Part A. 140 (13): 1440–1446. doi:10.1002/ajmg.a.31239. ISSN 1552-4825. PMID 16688753. S2CID 23618772.
- ^ Naveed, Mohammed; Nath, Swapan K.; Gaines, Mathew; Al-Ali, Mahmoud T.; Al-Khaja, Najib; Hutchings, David; Golla, Jeffrey; Deutsch, Samuel; Bottani, Armand; Antonarakis, Stylianos E.; Ratnamala, Uppala (January 2007). "Genomewide linkage scan for split-hand/foot malformation with long-bone deficiency in a large Arab family identifies two novel susceptibility loci on chromosomes 1q42.2-q43 and 6q14.1". American Journal of Human Genetics. 80 (1): 105–111. doi:10.1086/510724. ISSN 0002-9297. PMC 1785322. PMID 17160898.
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