Schuurs-Hoeijmakers syndrome
ORPHA:329224Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)4
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
Частый (30–79%)16
HP:0000028Cryptorchidism
HP:0000316Hypertelorism
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000414Bulbous nose
HP:0000494Downslanted palpebral fissures
HP:0000527Long eyelashes
HP:0001250Seizure
HP:0001488Bilateral ptosis
HP:0001508Failure to thrive
HP:0002019Constipation
HP:0002553Highly arched eyebrow
HP:0008947Floppy infant
HP:0012443Abnormality of brain morphology
HP:0012523Oral aversion
HP:0025160Abnormal temper tantrums
Периодический (5–29%)39
HP:0000023Inguinal hernia
HP:0000154Wide mouth
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000294Low anterior hairline
HP:0000319Smooth philtrum
HP:0000400Macrotia
HP:0000589Coloboma
HP:0000664Synophrys
HP:0000699Diastema
HP:0000729Autistic behavior
HP:0000767Pectus excavatum
HP:0000954Single transverse palmar crease
HP:0001195Single umbilical artery
HP:0001238Slender finger
HP:0001260Dysarthria
HP:0001272Cerebellar atrophy
HP:0001321Cerebellar hypoplasia
HP:0001344Absent speech
HP:0001537Umbilical hernia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001643Patent ductus arteriosus
HP:0001647Bicuspid aortic valve
HP:0001655Patent foramen ovale
HP:0001763Pes planus
HP:0002020Gastroesophageal reflux
HP:0002317Unsteady gait
HP:0002389Cavum septum pellucidum
HP:0002650Scoliosis
HP:0002714Downturned corners of mouth
HP:0002951Partial absence of cerebellar vermis
HP:0004209Clinodactyly of the 5th finger
HP:0005421Decreased circulating complement C3 concentration
HP:0006610Wide intermamillary distance
HP:0010821Focal emotional seizure with laughing
HP:0011304Broad thumb
HP:0012210Abnormal renal morphology
HP:0040288Nasogastric tube feeding
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)