Wiedemann-Rautenstrauch syndrome
ORPHA:3455Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)127
Очень частый (80–99%)30
HP:0000160Narrow mouth
HP:0000219Thin upper lip vermilion
HP:0000272Malar flattening
HP:0000278Retrognathia
HP:0000292Loss of facial adipose tissue
HP:0000307Pointed chin
HP:0000316Hypertelorism
HP:0000322Short philtrum
HP:0000325Triangular face
HP:0000337Broad forehead
HP:0000358Posteriorly rotated ears
HP:0000444Convex nasal ridge
HP:0000490Deeply set eye
HP:0000582Upslanted palpebral fissure
HP:0000621Entropion
HP:0000695Natal tooth
HP:0001043Prominent scalp veins
HP:0001511Intrauterine growth retardation
HP:0001533Slender build
HP:0002007Frontal bossing
HP:0002209Sparse scalp hair
HP:0002714Downturned corners of mouth
HP:0003758Reduced subcutaneous adipose tissue
HP:0004322Short stature
HP:0004482Relative macrocephaly
HP:0004492Widely patent fontanelles and sutures
HP:0005328Progeroid facial appearance
HP:0008846Severe intrauterine growth retardation
HP:0009059Congenital generalized lipodystrophy
HP:0100578Lipoatrophy
Частый (30–79%)61
HP:0000369Low-set ears
HP:0000403Recurrent otitis media
HP:0000518Cataract
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000598Abnormality of the ear
HP:0000664Synophrys
HP:0000668Hypodontia
HP:0000824Decreased response to growth hormone stimulation test
HP:0000870Increased circulating prolactin concentration
HP:0000938Osteopenia
HP:0000956Acanthosis nigricans
HP:0000963Thin skin
HP:0001007Hirsutism
HP:0001257Spasticity
HP:0001263Global developmental delay
HP:0001276Hypertonia
HP:0001289Confusion
HP:0001382Joint hypermobility
HP:0001385Hip dysplasia
HP:0001397Hepatic steatosis
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001581Recurrent skin infections
HP:0001945Fever
HP:0002078Truncal ataxia
HP:0002155Hypertriglyceridemia
HP:0002342Intellectual disability, moderate
HP:0002415Leukodystrophy
HP:0000028Cryptorchidism
HP:0000044Hypogonadotropic hypogonadism
HP:0000126Hydronephrosis
HP:0000164Abnormality of the dentition
HP:0000238Hydrocephalus
HP:0000267Cranial asymmetry
HP:0000364Hearing abnormality
HP:0002509Limb hypertonia
HP:0002684Thickened calvaria
HP:0002751Kyphoscoliosis
HP:0003097Short femur
HP:0003326Myalgia
HP:0003429CNS hypomyelination
HP:0003712Skeletal muscle hypertrophy
HP:0005792Short humerus
HP:0006470Thin long bone diaphyses
HP:0006480Premature loss of teeth
HP:0007957Corneal opacity
HP:0008070Sparse hair
HP:0008386Aplasia/Hypoplasia of the nails
HP:0008476Irregular sclerotic endplates
HP:0009003Increased subcutaneous truncal adipose tissue
HP:0010511Long toe
HP:0010648Dermal translucency
HP:0011410Caesarian section
HP:0011819Submucous cleft soft palate
HP:0011968Feeding difficulties
HP:0012811Wide nasal ridge
HP:0100490Camptodactyly of finger
HP:0100678Premature skin wrinkling
HP:0100769Synovitis
HP:0100807Long fingers
Периодический (5–29%)26
HP:0000010Recurrent urinary tract infections
HP:0000076Vesicoureteral reflux
HP:0000387Absent earlobe
HP:0000463Anteverted nares
HP:0000580Pigmentary retinopathy
HP:0000639Nystagmus
HP:0000648Optic atrophy
HP:0000771Gynecomastia
HP:0000946Hypoplastic ilia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001274Agenesis of corpus callosum
HP:0001321Cerebellar hypoplasia
HP:0001337Tremor
HP:0001601Laryngomalacia
HP:0001642Pulmonic stenosis
HP:0002126Polymicrogyria
HP:0002345Action tremor
HP:0003413Atlantoaxial abnormality
HP:00046912-3 toe syndactyly
HP:0007099Chiari type I malformation
HP:0008469Cervical vertebral dysplasia
HP:0008479Hypoplastic vertebral bodies
HP:0010994Abnormal corpus striatum morphology
HP:0030265Wide penis
HP:0100581Dilatation of renal calices
Очень редкий (1–4%)10
HP:0000047Hypospadias
HP:0000592Blue sclerae
HP:0000836Hyperthyroidism
HP:0005164Dysplastic pulmonary valve
HP:0005978Type II diabetes mellitus
HP:0007766Optic disc hypoplasia
HP:0025134Increased serum estradiol
HP:0030001Lagophthalmos
HP:0030088Increased serum testosterone level
HP:0045017Congenital malformation of the left heart
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 37 | 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)