Roberts syndrome
ORPHA:3103Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)18
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000272Malar flattening
HP:0000316Hypertelorism
HP:0000430Underdeveloped nasal alae
HP:0002817Abnormality of the upper limb
HP:0002984Hypoplasia of the radius
HP:0004209Clinodactyly of the 5th finger
HP:0005011Mesomelic arm shortening
HP:0006487Bowing of the long bones
HP:0008070Sparse hair
HP:0008846Severe intrauterine growth retardation
HP:0008897Postnatal growth retardation
HP:0009466Radial deviation of finger
HP:0009601Aplasia/Hypoplasia of the thumb
HP:0009623Proximal placement of thumb
HP:0009829Phocomelia
HP:0009943Complete duplication of thumb phalanx
Частый (30–79%)18
HP:0000028Cryptorchidism
HP:0000040Long penis
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000347Micrognathia
HP:0000387Absent earlobe
HP:0000518Cataract
HP:0000520Proptosis
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001622Premature birth
HP:0002974Radioulnar synostosis
HP:0007452Midface capillary hemangioma
HP:0008665Clitoral hypertrophy
HP:0009891Underdeveloped supraorbital ridges
HP:0030680Abnormal cardiovascular system morphology
HP:0000377Abnormal pinna morphology
Периодический (5–29%)18
HP:0000113Polycystic kidney dysplasia
HP:0000218High palate
HP:0000470Short neck
HP:0000501Glaucoma
HP:0000568Microphthalmia
HP:0000592Blue sclerae
HP:0000639Nystagmus
HP:0001239Wrist flexion contracture
HP:0001363Craniosynostosis
HP:0001561Polyhydramnios
HP:0001852Sandal gap
HP:0001873Thrombocytopenia
HP:0005048Synostosis of carpal bones
HP:0005876Progressive flexion contractures
HP:0006101Finger syndactyly
HP:0006380Knee flexion contracture
HP:0006443Patellar aplasia
HP:0007598Bilateral single transverse palmar creases
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 150 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)