Marden-Walker syndrome
ORPHA:2461Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)61
Очень частый (80–99%)28
HP:0000160Narrow mouth
HP:0000175Cleft palate
HP:0000176Submucous cleft hard palate
HP:0000193Bifid uvula
HP:0000252Microcephaly
HP:0000278Retrognathia
HP:0000298Mask-like facies
HP:0000347Micrognathia
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0001166Arachnodactyly
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0001387Joint stiffness
HP:0001460Aplasia/Hypoplasia involving the skeletal musculature
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0002804Arthrogryposis multiplex congenita
HP:0002974Radioulnar synostosis
HP:0003202Skeletal muscle atrophy
HP:0003510Severe short stature
HP:0003560Muscular dystrophy
HP:0011968Feeding difficulties
HP:0012745Short palpebral fissure
Частый (30–79%)7
HP:0000767Pectus excavatum
HP:0000768Pectus carinatum
HP:0001511Intrauterine growth retardation
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0007018Attention deficit hyperactivity disorder
HP:0100490Camptodactyly of finger
Периодический (5–29%)26
HP:0000003Multicystic kidney dysplasia
HP:0000036Abnormality of the penis
HP:0000039Epispadias
HP:0000047Hypospadias
HP:0000072Hydroureter
HP:0000077Abnormality of the kidney
HP:0000079Abnormality of the urinary system
HP:0000104Renal agenesis
HP:0000110Renal dysplasia
HP:0000126Hydronephrosis
HP:0000238Hydrocephalus
HP:0001274Agenesis of corpus callosum
HP:0001321Cerebellar hypoplasia
HP:0001331Absent septum pellucidum
HP:0001629Ventricular septal defect
HP:0001651Dextrocardia
HP:0001696Situs inversus totalis
HP:0001840Metatarsus adductus
HP:0001883Talipes
HP:0002021Pyloric stenosis
HP:0002334Abnormality of the cerebellar vermis
HP:0003312Abnormal form of the vertebral bodies
HP:0004307Abnormal anatomic location of the heart
HP:0008678Renal hypoplasia/aplasia
HP:0010935Abnormality of the upper urinary tract
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология3
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 50 | Worldwide | Case(s) |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only |
| Prevalence at birth | 1-9 / 100 000 | 2.5 | Belgium | Value and class |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)