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. Unlike other genetic syndromes, people with this syndrome don't exhibit intellectual disabilities. Only 4 cases have been reported in medical literature.

Description
People with this disorder often have the following symptoms:


 * 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
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.


 * 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)