Fountain syndrome
ORPHA:3219Malformation syndromeAutosomal recessiveInfancy, Neonatal
Фенотипы (HPO)44
Очень частый (80–99%)8
HP:0000179Thick lower lip vermilion
HP:0000280Coarse facial features
HP:0000282Facial edema
HP:0000311Round face
HP:0000407Sensorineural hearing impairment
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0004493Craniofacial hyperostosis
Частый (30–79%)7
HP:0000154Wide mouth
HP:0000232Everted lower lip vermilion
HP:0000293Full cheeks
HP:0000974Hyperextensible skin
HP:0001482Subcutaneous nodule
HP:0002353EEG abnormality
HP:0011800Midface retrusion
Периодический (5–29%)29
HP:0000174Abnormal palate morphology
HP:0000212Gingival overgrowth
HP:0000256Macrocephaly
HP:0000276Long face
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000505Visual impairment
HP:0000508Ptosis
HP:0000545Myopia
HP:0000574Thick eyebrow
HP:0000664Synophrys
HP:0000767Pectus excavatum
HP:0000965Cutis marmorata
HP:0001176Large hands
HP:0001250Seizure
HP:0001760Abnormal foot morphology
HP:0002167Abnormality of speech or vocalization
HP:0002414Spina bifida
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003298Spina bifida occulta
HP:0003312Abnormal form of the vertebral bodies
HP:0004322Short stature
HP:0009882Short distal phalanx of finger
HP:0010783Erythema
HP:0100255Metaphyseal dysplasia
HP:0100670Rough bone trabeculation
HP:0200034Papule
HP:0005916Abnormal metacarpal morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)