Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
ORPHA:444077Malformation syndromeAutosomal dominant, Not applicableAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)79
Очень частый (80–99%)10
HP:0000463Anteverted nares
HP:0000527Long eyelashes
HP:0000664Synophrys
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001513Obesity
HP:0002086Abnormality of the respiratory system
HP:0002553Highly arched eyebrow
HP:0004322Short stature
HP:0011842Abnormality of skeletal morphology
Частый (30–79%)14
HP:0000252Microcephaly
HP:0000311Round face
HP:0000365Hearing impairment
HP:0001156Brachydactyly
HP:0001627Abnormal heart morphology
HP:0001629Ventricular septal defect
HP:0001643Patent ductus arteriosus
HP:0002019Constipation
HP:0002020Gastroesophageal reflux
HP:0003468Abnormal vertebral morphology
HP:0006528Chronic lung disease
HP:0011471Gastrostomy tube feeding in infancy
HP:0011951Aspiration pneumonia
HP:0100874Thick hair
Периодический (5–29%)55
HP:0000047Hypospadias
HP:0000076Vesicoureteral reflux
HP:0000085Horseshoe kidney
HP:0000158Macroglossia
HP:0000162Glossoptosis
HP:0000218High palate
HP:0000219Thin upper lip vermilion
HP:0000293Full cheeks
HP:0000341Narrow forehead
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000378Cupped ear
HP:0000405Conductive hearing impairment
HP:0000407Sensorineural hearing impairment
HP:0000410Mixed hearing impairment
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000518Cataract
HP:0000520Proptosis
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000646Amblyopia
HP:0000771Gynecomastia
HP:0000821Hypothyroidism
HP:0000824Decreased response to growth hormone stimulation test
HP:0000956Acanthosis nigricans
HP:0001231Abnormal fingernail morphology
HP:0001357Plagiocephaly
HP:0001601Laryngomalacia
HP:0001607Subglottic stenosis
HP:0001635Congestive heart failure
HP:0001655Patent foramen ovale
HP:0001800Hypoplastic toenails
HP:0002092Pulmonary arterial hypertension
HP:0002099Asthma
HP:0002212Curly hair
HP:0002616Aortic root aneurysm
HP:0002645Wormian bones
HP:0002714Downturned corners of mouth
HP:0002779Tracheomalacia
HP:0003038Fibular hypoplasia
HP:0003074Hyperglycemia
HP:0003196Short nose
HP:0004602Cervical C2/C3 vertebral fusion
HP:0006434Hypoplasia of proximal radius
HP:0008388Abnormal toenail morphology
HP:0009894Thickened ears
HP:0009937Facial hirsutism
HP:0010535Sleep apnea
HP:0011221Vertical forehead creases
HP:0025313Exophoria
HP:0030043Hip subluxation
HP:0200055Small hand
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)