Simpson-Golabi-Behmel syndrome
ORPHA:373Malformation syndromeX-linked recessiveAntenatal, Childhood, Infancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)79
Очень частый (80–99%)21
HP:0000003Multicystic kidney dysplasia
HP:0000028Cryptorchidism
HP:0000098Tall stature
HP:0000154Wide mouth
HP:0000158Macroglossia
HP:0000256Macrocephaly
HP:0000280Coarse facial features
HP:0000303Mandibular prognathia
HP:0000316Hypertelorism
HP:0000772Abnormal rib morphology
HP:0001162Postaxial hand polydactyly
HP:0001629Ventricular septal defect
HP:0001744Splenomegaly
HP:0001769Broad foot
HP:0001773Short foot
HP:0001831Short toe
HP:0002240Hepatomegaly
HP:0002558Supernumerary nipple
HP:0002948Vertebral fusion
HP:0003212Increased circulating IgE level
HP:0003422Vertebral segmentation defect
Частый (30–79%)35
HP:0000023Inguinal hernia
HP:0000072Hydroureter
HP:0000073Ureteral duplication
HP:0000126Hydronephrosis
HP:0000175Cleft palate
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000465Webbed neck
HP:0000470Short neck
HP:0000494Downslanted palpebral fissures
HP:0000767Pectus excavatum
HP:0001522Death in infancy
HP:0001537Umbilical hernia
HP:0001539Omphalocele
HP:0001561Polyhydramnios
HP:0001631Atrial septal defect
HP:0001657Prolonged QT interval
HP:0001770Toe syndactyly
HP:0001792Small nail
HP:0001943Hypoglycemia
HP:0002164Nail dysplasia
HP:0002167Abnormality of speech or vocalization
HP:0002650Scoliosis
HP:0002705High, narrow palate
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0009536Short 2nd finger
HP:0010318Aplasia/Hypoplasia of the abdominal wall musculature
HP:0011039Abnormality of the helix
HP:0011304Broad thumb
HP:0011710Bundle branch block
HP:0030680Abnormal cardiovascular system morphology
HP:0100490Camptodactyly of finger
HP:0000358Posteriorly rotated ears
Периодический (5–29%)23
HP:0000047Hypospadias
HP:0000204Cleft upper lip
HP:0000286Epicanthus
HP:0000776Congenital diaphragmatic hernia
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001305Dandy-Walker malformation
HP:0001374Congenital hip dislocation
HP:0001608Abnormality of the voice
HP:0001609Hoarse voice
HP:0001638Cardiomyopathy
HP:0001748Polysplenia
HP:0001762Talipes equinovarus
HP:0002664Neoplasm
HP:0002667Nephroblastoma
HP:0002884Hepatoblastoma
HP:0003006Neuroblastoma
HP:0004510Pancreatic islet-cell hyperplasia
HP:0005616Accelerated skeletal maturation
HP:0008736Hypoplasia of penis
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Cases/families | — | 250 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)