Отоспондиломегаепіфізарна дисплазія
ORPHA:1427· ICD-10 Q77.7· Autosomal recessive otospondylomegaepiphyseal dysplasia
Визначення(English summary)
Otospondylomegaepiphyseal dysplasia (OSMED) is an inborn error of cartilage collagen formation characterized by sensorineural hearing loss, enlarged epiphyses, skeletal dysplasia with disproportionately short limbs, vertebral body anomalies and a characteristic facies.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Antenatal, Neonatal