 | This article is an orphan, as no other articles link to it. Please introduce links to this page from related articles; try the Find link tool for suggestions. (May 2022) |
| 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 |
| 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. |
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.
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.
The following loci are associated with the different types of SHFLD: 1q42.2-43 (SHFLD1), 6q14.1 (SHFLD2), and 17p13.3 (SHFLD3). The mutations in the loci were found when the entire genome of a large Arab consanguineous family was analyzed.
References
- "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.
 | This genetic disorder article is a stub. You can help Misplaced Pages by expanding it. |