Acro-oto-radial syndrome

Acro-oto-radial syndrome, also known as Pseudopapilledema blepharophimosis hand anomalies syndrome is a very rare hereditary disorder which is characterized by pseudopapilledema, hearing loss, cranio-facial dysmorphisms and hand/foot anomalies.[1] Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature.[2]

Acro-oto radial syndrome
Other namesPseudopallidema blepharophimosis hand anomalies syndrome
SpecialtyMedical genetics
Preventionnone
PrognosisMedium to Good
Frequencyvery rare, only 4 cases have been reported in medical literature.
Deaths-

Description

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People with this disorder often have the following symptoms:[3]

Cases

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The following is the list of all cases of acro-oto-radial syndrome reported in medical literature:

  • 1991: Paes-Alves et al. describes 3 affected members of 2 consanguineous sibships from the same large family in Bahia, Brazil with the symptoms mentioned above. They propose this case to be part of a novel autosomal recessive malformation syndrome.[4]
  • 1997: Bertola et al. describes a 23-year-old patient born to consanguineous parents with the symptoms mentioned above. They conclude that this is also part of the same syndrome reported by Paes-Alves and suggest a name for the syndrome (acro-oto-radial syndrome) [5]

References

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  1. ^ "Pseudopapilledema blepharophimosis hand anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-01.
  2. ^ "OMIM Entry - 264475 - PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES". www.omim.org. Retrieved 2022-06-01.
  3. ^ RESERVED, INSERM US14-- ALL RIGHTS. "Orphanet: Pseudo papiledema blefarofimose anomalias das m os". www.orpha.net. Retrieved 2022-06-01.{{cite web}}: CS1 maint: numeric names: authors list (link)
  4. ^ Paes-Alves, A. F.; Azevêdo, E. S.; Sousa, M. G.; Almeida-Melo, N.; Oliveira-Filho, O. J. (1991-11-01). "Autosomal recessive malformation syndrome with minor manifestation in the heterozygotes: a preliminary report of a possible new syndrome". American Journal of Medical Genetics. 41 (2): 141–152. doi:10.1002/ajmg.1320410202. ISSN 0148-7299. PMID 1785624.
  5. ^ Bertola, D. R.; Wolf, L. M.; Toriello, H. V.; Netzloff, M. L. (1997-12-31). "Acro-oto-ocular syndrome: further evidence for a new autosomal recessive disorder". American Journal of Medical Genetics. 73 (4): 442–446. doi:10.1002/(SICI)1096-8628(19971231)73:4<442::AID-AJMG13>3.0.CO;2-R. ISSN 0148-7299. PMID 9415472.