Schinzel-Giedion syndrome
ORPHA:798Malformation syndromeAutosomal dominant, Not applicableAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)92
Очень частый (80–99%)7
HP:0000337Broad forehead
HP:0000455Broad nasal tip
HP:0002007Frontal bossing
HP:0003196Short nose
HP:0011800Midface retrusion
HP:0012736Profound global developmental delay
HP:0012758Neurodevelopmental delay
Частый (30–79%)23
HP:0000078Abnormality of the genital system
HP:0000126Hydronephrosis
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0000260Wide anterior fontanel
HP:0000316Hypertelorism
HP:0000329Facial hemangioma
HP:0000341Narrow forehead
HP:0000356Abnormality of the outer ear
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000505Visual impairment
HP:0000520Proptosis
HP:0000586Shallow orbits
HP:0000885Broad ribs
HP:0001250Seizure
HP:0001531Failure to thrive in infancy
HP:0001627Abnormal heart morphology
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0004554Generalized hypertrichosis
HP:0009882Short distal phalanx of finger
HP:0011039Abnormality of the helix
Периодический (5–29%)33
HP:0000168Abnormality of the gingiva
HP:0000187Broad alveolar ridges
HP:0000218High palate
HP:0000278Retrognathia
HP:0000347Micrognathia
HP:0000375Abnormal cochlea morphology
HP:0000452Choanal stenosis
HP:0000522Alacrima
HP:0000684Delayed eruption of teeth
HP:0000765Abnormal thorax morphology
HP:0000889Abnormality of the clavicle
HP:0001537Umbilical hernia
HP:0001545Anteriorly placed anus
HP:0001734Annular pancreas
HP:0001845Overlapping toe
HP:0002089Pulmonary hypoplasia
HP:0002098Respiratory distress
HP:0002120Cerebral cortical atrophy
HP:0002190Choroid plexus cyst
HP:0002251Aganglionic megacolon
HP:0002645Wormian bones
HP:0002694Sclerosis of skull base
HP:0002751Kyphoscoliosis
HP:0002982Tibial bowing
HP:0003173Hypoplastic pubic bone
HP:0007099Chiari type I malformation
HP:0008610Infantile sensorineural hearing impairment
HP:0008628Abnormality of the stapes
HP:0009792Teratoma
HP:0010034Short 1st metacarpal
HP:0010464Streak ovary
HP:0010557Overlapping fingers
HP:0045005Neural tube defect
Очень редкий (1–4%)29
HP:0000023Inguinal hernia
HP:0000047Hypospadias
HP:0000054Micropenis
HP:0000069Abnormality of the ureter
HP:0000107Renal cyst
HP:0000280Coarse facial features
HP:0000322Short philtrum
HP:0000787Nephrolithiasis
HP:0001257Spasticity
HP:0001276Hypertonia
HP:0001601Laryngomalacia
HP:0001605Vocal cord paralysis
HP:0002015Dysphagia
HP:0002521Hypsarrhythmia
HP:0002650Scoliosis
HP:0002667Nephroblastoma
HP:0002884Hepatoblastoma
HP:0002888Ependymoma
HP:0002974Radioulnar synostosis
HP:0005349Hypoplasia of the epiglottis
HP:0006532Recurrent pneumonia
HP:0009748Large earlobe
HP:0011097Epileptic spasm
HP:0011471Gastrostomy tube feeding in infancy
HP:0011787Central hypothyroidism
HP:0012324Myeloid leukemia
HP:0012385Camptodactyly
HP:0025259Stiff elbow
HP:0030736Sacrococcygeal teratoma
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | — | Europe | Class only |
| Cases/families | — | 46 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)