Osteopetrosis 1

Osteopetrosis 1 [TCIRG1]: Features of the disorder include macrocephaly, progressive deafness and blindness, hepatosplenomegaly, and severe anemia beginning in early infancy. Deafness and blindness are generally thought to represent effects of pressure on nerves – all features are related to abnormal bone formation.

Ashkenazi Jewish Carrier Frequency: 1 in 350