Hajdu-Cheney syndrome
ORPHA:955Malformation syndromeAutosomal dominantChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)86
Очень частый (80–99%)18
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000494Downslanted palpebral fissures
HP:0000574Thick eyebrow
HP:0000704Periodontitis
HP:0000929Abnormal skull morphology
HP:0000938Osteopenia
HP:0000939Osteoporosis
HP:0001156Brachydactyly
HP:0001831Short toe
HP:0001999Abnormal facial shape
HP:0002652Skeletal dysplasia
HP:0002797Osteolysis
HP:0004322Short stature
HP:0004331Decreased skull ossification
HP:0009882Short distal phalanx of finger
HP:0011305Partial absence of toe
Частый (30–79%)29
HP:0001382Joint hypermobility
HP:0000160Narrow mouth
HP:0000164Abnormality of the dentition
HP:0000233Thin vermilion border
HP:0000256Macrocephaly
HP:0000268Dolichocephaly
HP:0000269Prominent occiput
HP:0000277Abnormality of the mandible
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000365Hearing impairment
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000470Short neck
HP:0000506Telecanthus
HP:0001231Abnormal fingernail morphology
HP:0002230Generalized hirsutism
HP:0002308Chiari malformation
HP:0002645Wormian bones
HP:0002650Scoliosis
HP:0002653Bone pain
HP:0002688Absent frontal sinuses
HP:0002691Platybasia
HP:0002714Downturned corners of mouth
HP:0002757Recurrent fractures
HP:0002829Arthralgia
HP:0004586Biconcave vertebral bodies
HP:0008424Hypoplastic 5th lumbar vertebrae
HP:0010807Open bite
Периодический (5–29%)39
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000238Hydrocephalus
HP:0000294Low anterior hairline
HP:0000369Low-set ears
HP:0000431Wide nasal bridge
HP:0000518Cataract
HP:0000545Myopia
HP:0000612Iris coloboma
HP:0000664Synophrys
HP:0000768Pectus carinatum
HP:0000823Delayed puberty
HP:0000958Dry skin
HP:0001072Thickened skin
HP:0001508Failure to thrive
HP:0001537Umbilical hernia
HP:0001608Abnormality of the voice
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0001650Aortic valve stenosis
HP:0001718Mitral stenosis
HP:0001744Splenomegaly
HP:0002205Recurrent respiratory infections
HP:0002208Coarse hair
HP:0002240Hepatomegaly
HP:0002315Headache
HP:0002566Intestinal malrotation
HP:0002808Kyphosis
HP:0002999Patellar dislocation
HP:0003396Syringomyelia
HP:0005562Multiple renal cysts
HP:0006487Bowing of the long bones
HP:0009830Peripheral neuropathy
HP:0010669Hypoplasia of the zygomatic bone
HP:0030680Abnormal cardiovascular system morphology
HP:0100670Rough bone trabeculation
HP:0100790Hernia
HP:0200042Skin ulcer
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)