Спондилокарпотарзальний синостоз
ORPHA:3275· ICD-10 Q76.4· Spondylocarpotarsal synostosis
Визначення(English summary)
A spondylodysplasic dysplasia clinically characterized by postnatal progressive vertebral fusions frequently manifesting as block vertebrae, contributing to an shortened trunk and hence disproportionate short stature, scoliosis, lordosis, carpal and tarsal synostosis and infrequently, club feet.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Childhood, Infancy