Autosomal recessive Robinow syndrome
ORPHA:1507Clinical subtypeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены2
Фенотипы (HPO)80
Очень частый (80–99%)16
HP:0000154Wide mouth
HP:0000164Abnormality of the dentition
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0001156Brachydactyly
HP:0002714Downturned corners of mouth
HP:0003027Mesomelia
HP:0003196Short nose
HP:0003422Vertebral segmentation defect
HP:0004209Clinodactyly of the 5th finger
HP:0008736Hypoplasia of penis
HP:0008873Disproportionate short-limb short stature
HP:0009882Short distal phalanx of finger
HP:0010807Open bite
HP:0011800Midface retrusion
Частый (30–79%)28
HP:0000028Cryptorchidism
HP:0000212Gingival overgrowth
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000365Hearing impairment
HP:0000389Chronic otitis media
HP:0000520Proptosis
HP:0000527Long eyelashes
HP:0000582Upslanted palpebral fissure
HP:0000637Long palpebral fissure
HP:0000767Pectus excavatum
HP:0000902Rib fusion
HP:0001537Umbilical hernia
HP:0002007Frontal bossing
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003042Elbow dislocation
HP:0005280Depressed nasal bridge
HP:0010059Broad hallux phalanx
HP:0010296Ankyloglossia
HP:0010297Bifid tongue
HP:0010804Tented upper lip vermilion
HP:0011304Broad thumb
HP:0012815Hypoplastic female external genitalia
HP:0100798Fingernail dysplasia
HP:0000358Posteriorly rotated ears
Периодический (5–29%)36
HP:0001641Abnormal pulmonary valve morphology
HP:0001679Abnormal aortic morphology
HP:0001702Abnormal tricuspid valve morphology
HP:0001770Toe syndactyly
HP:0001852Sandal gap
HP:0002205Recurrent respiratory infections
HP:0002263Exaggerated cupid's bow
HP:0003272Abnormality of the hip bone
HP:0004397Ectopic anus
HP:0005048Synostosis of carpal bones
HP:0006101Finger syndactyly
HP:0007598Bilateral single transverse palmar creases
HP:0011069Supernumerary tooth
HP:0100490Camptodactyly of finger
HP:0000003Multicystic kidney dysplasia
HP:0000023Inguinal hernia
HP:0000126Hydronephrosis
HP:0000174Abnormal palate morphology
HP:0000202Orofacial cleft
HP:0000322Short philtrum
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000592Blue sclerae
HP:0000668Hypodontia
HP:0000768Pectus carinatum
HP:0000960Sacral dimple
HP:0001052Nevus flammeus
HP:0001171Split hand
HP:0001249Intellectual disability
HP:0001522Death in infancy
HP:0001596Alopecia
HP:0001629Ventricular septal defect
HP:0001631Atrial septal defect
HP:0001636Tetralogy of Fallot
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)