Radioulnar synostosis-microcephaly-scoliosis syndrome
ORPHA:3268Malformation syndromeUnknownAntenatal, Neonatal
Фенотипы (HPO)19
Очень частый (80–99%)19
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000288Abnormality of the philtrum
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000768Pectus carinatum
HP:0000772Abnormal rib morphology
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001622Premature birth
HP:0002650Scoliosis
HP:0002750Delayed skeletal maturation
HP:0002974Radioulnar synostosis
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0006101Finger syndactyly
HP:0007477Abnormal dermatoglyphics
HP:0009811Abnormality of the elbow
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 13 | 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)