Синдром Мельника-Нідлза
ORPHA:2484· ICD-10 Q77.8· Melnick-Needles syndrome
Визначення(English summary)
Melnick-Needles syndrome (MNS) belongs to the otopalatodigital syndrome spectrum disorder and is associated with a short stature, facial dysmorphism, osseous abnormalities involving the majority of the axial and appendicular skeleton resulting in impaired speech and masticatory problems.
- Поширеність
- <1 / 1 000 000
- Успадкування
- X-linked dominant
- Вік початку
- Childhood