Краніолентикулосуглобова дисплазія
ORPHA:50814· ICD-10 Q75.8· Craniolenticulosutural dysplasia
Визначення(English summary)
Craniolenticulosutural dysplasia (CLSD), also known as Boyadjiev-Jabs syndrome, is characterized by the specific association of large and late-closing fontanels, hypertelorism, early-onset cataract and mild generalized skeletal dysplasia.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal