Reardon-Hall-Slaney syndrome

Reardon-Hall-Slaney syndrome
Other namesmesomelic dysplasia with cleft palate and camptodactyly syndrome,[1] mesomelic limb shortening and bowing, mesomelic dwarfism cleft palate camptodactyly[2]
SpecialtyMedical genetics
Symptomsdwarfism due to limb shortening, camptodactyly and a cleft palate
Usual onsetBirth
DurationLife-long
CausesAutosomal recessive genetic mutation
Differential diagnosisIdiopathic cleft palate, idiopathic short stature, dismelia
Preventionnone
Prognosisgood
Frequencyvery 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

  1. ^ "Condition - Reardon Hall Slaney Syndrome". Cochrane Linked Data Browser.
  2. ^ "Mesomelic dwarfism cleft palate camptodactyly". 16 June 2022.
  3. ^ "Mesomelic dwarfism cleft palate camptodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov.
  4. ^ a b "Orphanet: Mesomelic dwarfism cleft palate camptodactyly syndrome". Orphanet. 2022-05-12. Retrieved 2022-05-13.
  5. ^ "Mesomelic Limb Shortening and Bowing". malacards.org.
  6. ^ "Mesomelic dwarfism-cleft palate-camptodactyly syndrome". Rare Disease InfoHub.
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