vitalwiki

Спондилоепіметафізарна дисплазія, тип Марото

ORPHA:263482· ICD-10 Q77.7· Spondyloepimetaphyseal dysplasia, Maroteaux type

Визначення(English summary)

Spondyloepiphyseal dysplasia, Maroteaux type is a very rare type of spondyloepiphyseal dysplasia (see this term) described in fewer than 10 patients to date and characterized clinically by dysplastic epiphyses, short stature appearing in infancy, short neck, short and stubby hands and feet, scoliosis, genu valgum, abnormal pelvis, osteoporosis and osteoarthritis.

Поширеність
<1 / 1 000 000
Успадкування
Not applicable
Вік початку
Infancy, Neonatal