Autosomal recessive Kenny-Caffey syndrome
ORPHA:93324Etiological subtypeAutosomal recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)22
Очень частый (80–99%)3
HP:0002199Hypocalcemic seizures
HP:0002901Hypocalcemia
HP:0008198Congenital hypoparathyroidism
Частый (30–79%)19
HP:0000252Microcephaly
HP:0000270Delayed cranial suture closure
HP:0000293Full cheeks
HP:0000316Hypertelorism
HP:0000670Carious teeth
HP:0000883Thin ribs
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001773Short foot
HP:0002750Delayed skeletal maturation
HP:0003472Hypocalcemic tetany
HP:0004331Decreased skull ossification
HP:0005450Calvarial osteosclerosis
HP:0005791Cortical thickening of long bone diaphyses
HP:0006470Thin long bone diaphyses
HP:0006645Thin clavicles
HP:0008897Postnatal growth retardation
HP:0100254Stenosis of the medullary cavity of the long bones
HP:0200055Small hand
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)