Ларингооніхокутанний синдром
ORPHA:2407· ICD-10 Q81.8· Laryngo-onycho-cutaneous syndrome
Визначення(English summary)
LOC syndrome is a subtype of junctional epidermolysis bullosa (JEB, see this term) characterized by an altered cry in the neonatal period and by aberrant production of granulation tissue in particular affecting the upper airway tract, conjunctiva and periungual/subungual sites.
- Поширеність
- <1 / 1 000 000
- Успадкування
- Autosomal recessive
- Вік початку
- Infancy, Neonatal