Spondylocamptodactyly, also known as Spondylocamptodactyly syndrome, is a very rare multi-systemic genetic disorder which is characterized by the presence of camptodactyly, flattened vertebrae and thoracic scoliosis of varying degrees.[1][2] It has been described in 5 members of a 3-generation Mexican family,[3][4] It is thought to be inherited in an either autosomal dominant or autosomal recessive with pseudodominance pattern.[5][6]

Spondylocamptodactyly
Other namesSpondylocamptodactyly syndrome
It remains unclear whether this disorder is inherited in an autosomal dominant or autosomal recessive manner.
SpecialtyMedical genetics
SymptomsSkeletal anomalies
CausesAutosomal dominant/recessive with pseudodominance inheritance
Risk factorsunknown
Preventionnone
PrognosisGood
Frequencyvery rare, only 5 cases from a single 3-generation family have been reported.
Deaths-

References

edit
  1. ^ "Spondylocamptodactyly - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-01.
  2. ^ "Spondylocamptodactyly syndrome (Concept Id: C1838781) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2022-06-01.
  3. ^ "Spondylocamptodactyly Syndrome". DoveMed. Retrieved 2022-06-01.
  4. ^ Lizcano-Gil, L. A.; García-Cruz, D.; Sánchez-Corona, J.; Cantú, J. M. (October 1995). "Spondylo-camptodactyly syndrome: a distinct autosomal dominant entity?". Clinical Genetics. 48 (4): 173–176. doi:10.1111/j.1399-0004.1995.tb04083.x. ISSN 0009-9163. PMID 8591666. S2CID 10101001.
  5. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Spondylocamptodactyly syndrome". www.orpha.net. Retrieved 2022-06-01.{{cite web}}: CS1 maint: numeric names: authors list (link)
  6. ^ "OMIM Entry - 600000 - SPONDYLOCAMPTODACTYLY". omim.org. Retrieved 2022-06-01.