Microphthalmia with limb anomalies
ORPHA:1106Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)57
Очень частый (80–99%)15
HP:0000327Hypoplasia of the maxilla
HP:0000534Abnormal eyebrow morphology
HP:0000568Microphthalmia
HP:0000581Blepharophimosis
HP:0001770Toe syndactyly
HP:0001852Sandal gap
HP:0002007Frontal bossing
HP:0002814Abnormality of the lower limb
HP:0002817Abnormality of the upper limb
HP:0005048Synostosis of carpal bones
HP:0005916Abnormal metacarpal morphology
HP:0006101Finger syndactyly
HP:0011220Prominent forehead
HP:0011478True anophthalmia
HP:0100240Synostosis of joints
Частый (30–79%)22
HP:0009380Finger aplasia
HP:0000358Posteriorly rotated ears
HP:0000204Cleft upper lip
HP:0000648Optic atrophy
HP:0001162Postaxial hand polydactyly
HP:0001172Abnormal thumb morphology
HP:0001215Camptodactyly of 2nd-5th fingers
HP:0001508Failure to thrive
HP:0001849Foot oligodactyly
HP:0002342Intellectual disability, moderate
HP:0002982Tibial bowing
HP:0003026Short long bone
HP:0003038Fibular hypoplasia
HP:0003312Abnormal form of the vertebral bodies
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0005280Depressed nasal bridge
HP:0005736Short tibia
HP:0007598Bilateral single transverse palmar creases
HP:0008368Tarsal synostosis
HP:0009748Large earlobe
HP:0010864Intellectual disability, severe
Периодический (5–29%)20
HP:0001382Joint hypermobility
HP:0000028Cryptorchidism
HP:0000085Horseshoe kidney
HP:0000175Cleft palate
HP:0000218High palate
HP:0000233Thin vermilion border
HP:0000238Hydrocephalus
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0001522Death in infancy
HP:0001572Macrodontia
HP:0001762Talipes equinovarus
HP:0001830Postaxial foot polydactyly
HP:0002139Arrhinencephaly
HP:0002827Hip dislocation
HP:0003042Elbow dislocation
HP:0005293Venous insufficiency
HP:0006487Bowing of the long bones
HP:0010650Hypoplasia of the premaxilla
HP:0011304Broad thumb
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 35 | Worldwide | Family(ies) |
| 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)