Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
ORPHA:508498Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)78
Очень частый (80–99%)1
HP:0001249Intellectual disability
Частый (30–79%)14
HP:0000219Thin upper lip vermilion
HP:0000308Microretrognathia
HP:0000343Long philtrum
HP:0000365Hearing impairment
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000589Coloboma
HP:0000998Hypertrichosis
HP:0001155Abnormality of the hand
HP:0002761Generalized joint laxity
HP:0004322Short stature
HP:0011842Abnormality of skeletal morphology
HP:0011968Feeding difficulties
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)63
HP:0000047Hypospadias
HP:0000085Horseshoe kidney
HP:0000089Renal hypoplasia
HP:0000104Renal agenesis
HP:0000125Pelvic kidney
HP:0000252Microcephaly
HP:0000303Mandibular prognathia
HP:0000347Micrognathia
HP:0000480Retinal coloboma
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000545Myopia
HP:0000565Esotropia
HP:0000568Microphthalmia
HP:0000609Optic nerve hypoplasia
HP:0000612Iris coloboma
HP:0000646Amblyopia
HP:0000729Autistic behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000767Pectus excavatum
HP:0000974Hyperextensible skin
HP:0001052Nevus flammeus
HP:0001177Preaxial hand polydactyly
HP:0001274Agenesis of corpus callosum
HP:0001629Ventricular septal defect
HP:0001636Tetralogy of Fallot
HP:0001647Bicuspid aortic valve
HP:0001659Aortic regurgitation
HP:0001660Truncus arteriosus
HP:0001680Coarctation of aorta
HP:0001738Exocrine pancreatic insufficiency
HP:0001763Pes planus
HP:0001845Overlapping toe
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002360Sleep abnormality
HP:0002414Spina bifida
HP:0002827Hip dislocation
HP:0002942Thoracic kyphosis
HP:0002943Thoracic scoliosis
HP:0002949Fused cervical vertebrae
HP:0003835Shoulder subluxation
HP:0004209Clinodactyly of the 5th finger
HP:0004279Short palm
HP:00046912-3 toe syndactyly
HP:0005620Hypermobility of interphalangeal joints
HP:0006009Broad phalanx
HP:0006695Atrioventricular canal defect
HP:0006712Aplasia/Hypoplasia of the ribs
HP:0006970Periventricular leukomalacia
HP:0007687Unilateral ptosis
HP:0007874Almond-shaped palpebral fissure
HP:0008467Thoracic hemivertebrae
HP:0009237Short 5th finger
HP:0009997Duplication of phalanx of hand
HP:0010055Broad hallux
HP:0010628Facial palsy
HP:0011304Broad thumb
HP:0011682Perimembranous ventricular septal defect
HP:0012487Cerebellopontine angle arachnoid cyst
HP:0012745Short palpebral fissure
HP:0012795Abnormality of the optic disc
HP:0025481Cervical hemivertebrae
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 18 | 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)