Congenital limbs-face contractures-hypotonia-developmental delay syndrome
ORPHA:562528Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)50
Очень частый (80–99%)3
HP:0002804Arthrogryposis multiplex congenita
HP:0012385Camptodactyly
HP:0012758Neurodevelopmental delay
Частый (30–79%)22
HP:0000205Pursed lips
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000431Wide nasal bridge
HP:0000470Short neck
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000750Delayed speech and language development
HP:0001181Adducted thumb
HP:0001193Ulnar deviation of the hand or of fingers of the hand
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0001371Flexion contracture
HP:0001762Talipes equinovarus
HP:0002000Short columella
HP:0002020Gastroesophageal reflux
HP:0002793Abnormal pattern of respiration
HP:0009931Enlarged naris
HP:0011824Chin with H-shaped crease
HP:0100790Hernia
Периодический (5–29%)19
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000248Brachycephaly
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000337Broad forehead
HP:0000369Low-set ears
HP:0000565Esotropia
HP:0001250Seizure
HP:0001251Ataxia
HP:0001276Hypertonia
HP:0001848Calcaneovalgus deformity
HP:0002019Constipation
HP:0002093Respiratory insufficiency
HP:0002307Drooling
HP:0002650Scoliosis
HP:0004322Short stature
HP:0011968Feeding difficulties
Очень редкий (1–4%)6
HP:0000256Macrocephaly
HP:0000316Hypertelorism
HP:0000400Macrotia
HP:0000417Slender nose
HP:0000545Myopia
HP:0001166Arachnodactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 14 | 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)