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.

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	-

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)