Autosomal dominant Robinow syndrome
ORPHA:3107Clinical subtypeAutosomal dominantInfancy, Neonatal
Ассоциированные гены4
| Ген | Полное название | Тип связи | Тип гена | OMIM |
|---|---|---|---|---|
| DVL3 | dishevelled segment polarity protein 3 | Disease-causing germline mutation(s) in | gene with protein product | 601368 |
| WNT5A | Wnt family member 5A | Disease-causing germline mutation(s) in | gene with protein product | 164975 |
| DVL1 | dishevelled segment polarity protein 1 | Disease-causing germline mutation(s) in | gene with protein product | 601365 |
| FZD2 | frizzled class receptor 2 | Disease-causing germline mutation(s) in | gene with protein product | 600667 |
Фенотипы (HPO)80
Очень частый (80–99%)10
HP:0000316Hypertelorism
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0001156Brachydactyly
HP:0002983Micromelia
HP:0003196Short nose
HP:0004279Short palm
HP:0008736Hypoplasia of penis
HP:0011800Midface retrusion
Частый (30–79%)32
HP:0000028Cryptorchidism
HP:0000059Hypoplastic labia majora
HP:0000060Clitoral hypoplasia
HP:0000064Hypoplastic labia minora
HP:0000168Abnormality of the gingiva
HP:0000212Gingival overgrowth
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000286Epicanthus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000520Proptosis
HP:0000527Long eyelashes
HP:0000582Upslanted palpebral fissure
HP:0000637Long palpebral fissure
HP:0000767Pectus excavatum
HP:0001537Umbilical hernia
HP:0002007Frontal bossing
HP:0002705High, narrow palate
HP:0002714Downturned corners of mouth
HP:0002937Hemivertebrae
HP:0003312Abnormal form of the vertebral bodies
HP:0003510Severe short stature
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0007665Curly eyelashes
HP:0010297Bifid tongue
HP:0010807Open bite
HP:0011220Prominent forehead
HP:0012905Euryblepharon
HP:0009099Median cleft palate
Периодический (5–29%)38
HP:0000023Inguinal hernia
HP:0000036Abnormality of the penis
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000322Short philtrum
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000592Blue sclerae
HP:0000668Hypodontia
HP:0000674Anodontia
HP:0000677Oligodontia
HP:0000768Pectus carinatum
HP:0000960Sacral dimple
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001385Hip dysplasia
HP:0001596Alopecia
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002812Coxa vara
HP:0002827Hip dislocation
HP:0003042Elbow dislocation
HP:0005306Capillary hemangioma
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006101Finger syndactyly
HP:0008402Ridged fingernail
HP:0010733Naevus flammeus of the eyelid
HP:0011069Supernumerary tooth
HP:0040036Onychogryposis of fingernail
HP:0100490Camptodactyly of finger
HP:0100541Femoral hernia
HP:0100798Fingernail dysplasia
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)