Acro-oto-radial syndrome
| Acro-oto radial syndrome | |
|---|---|
| Other names | Pseudopallidema blepharophimosis hand anomalies syndrome |
 | |
| Specialty | Medical genetics |
| Prevention | none |
| Prognosis | Medium to Good |
| Frequency | very rare, only 4 cases have been reported in medical literature. |
| Deaths | - |
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]
Description[edit]
People with this disorder often have the following symptoms:[3]
- Pseudopapilledema
- Hearing loss
- Microcephaly
- Down-slanting palpebral fissures
- Broad nose
- Micrognathia
- Ear malformations
- Generalized shortness of digits
- Thenar and hypothenar eminence hypoplasia
- Hallux varus
- Foot syndactyly
Cases[edit]
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[edit]
- ^ "Pseudopapilledema blepharophimosis hand anomalies - About the Disease - Genetic and Rare Diseases Information Center". rarediseases.info.nih.gov. Retrieved 2022-06-01.
- ^ "OMIM Entry - 264475 - PSEUDOPAPILLEDEMA, OCULAR HYPOTELORISM, BLEPHAROPHIMOSIS, AND HAND ANOMALIES". www.omim.org. Retrieved 2022-06-01.
- ^ 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) - ^ 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.
- ^ 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.