Medicine:Reardon-Hall-Slaney syndrome
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Reardon-Hall-Slaney syndrome | |
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Other names | mesomelic dysplasia with cleft palate and camptodactyly syndrome,[1] mesomelic limb shortening and bowing, mesomelic dwarfism cleft palate camptodactyly[2] |
Specialty | Medical genetics |
Symptoms | dwarfism due to limb shortening, camptodactyly and a cleft palate |
Usual onset | Birth |
Duration | Life-long |
Causes | Autosomal recessive genetic mutation |
Differential diagnosis | Idiopathic cleft palate, idiopathic short stature, dismelia |
Prevention | none |
Prognosis | good |
Frequency | very rare, only 2 cases have been recorded in medical literature |
Reardon-Hall-Slaney syndrome, also known as mesomelic dwarfism-cleft palate-camptodactyly is a rare genetic disorder which is characterized by mesomelic limb shortening and bowing, finger camptodactyly, skin dimpling, retrognathia and mandibular hypoplasia. Only 2 cases of this syndrome have been described in medical literature, both of those cases being a brother and sister who were born to consanguineous parents.[3][4][5] This disorder is inherited in an autosomal recessive fashion.[4][6]
References
- ↑ "Condition - Reardon Hall Slaney Syndrome". https://data.cochrane.org/concepts/jAP1rj4xEnI4j5.
- ↑ "Mesomelic dwarfism cleft palate camptodactyly". https://rarediseases.org/gard-rare-disease/mesomelic-dwarfism-cleft-palate-camptodactyly/.
- ↑ "Mesomelic dwarfism cleft palate camptodactyly - About the Disease - Genetic and Rare Diseases Information Center". https://rarediseases.info.nih.gov/diseases/3552/mesomelic-dwarfism-cleft-palate-camptodactyly.
- ↑ 4.0 4.1 "Orphanet: Mesomelic dwarfism cleft palate camptodactyly syndrome". 2022-05-12. https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2631.
- ↑ "Mesomelic Limb Shortening and Bowing". https://www.malacards.org/card/mesomelic_limb_shortening_and_bowing.
- ↑ "Mesomelic dwarfism-cleft palate-camptodactyly syndrome". https://rarediseases.oscar.ncsu.edu/disease/mesomelic-dwarfism-cleft-palate-camptodactyly-syndrome/about/.
Original source: https://en.wikipedia.org/wiki/Reardon-Hall-Slaney syndrome.
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