Filippi syndrome
ORPHA:3255Malformation syndromeAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)40
Очень частый (80–99%)14
HP:0000028Cryptorchidism
HP:0000252Microcephaly
HP:0000426Prominent nasal bridge
HP:0000430Underdeveloped nasal alae
HP:0000431Wide nasal bridge
HP:0000445Wide nose
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002300Mutism
HP:0002381Aphasia
HP:0003510Severe short stature
HP:0004209Clinodactyly of the 5th finger
HP:0010529Echolalia
Частый (30–79%)21
HP:0000322Short philtrum
HP:0000337Broad forehead
HP:0000494Downslanted palpebral fissures
HP:0000648Optic atrophy
HP:0001252Hypotonia
HP:0001257Spasticity
HP:0001376Limitation of joint mobility
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001792Small nail
HP:0001864Clinodactyly of the 5th toe
HP:0002007Frontal bossing
HP:0002451Limb dystonia
HP:0002750Delayed skeletal maturation
HP:0004322Short stature
HP:0007598Bilateral single transverse palmar creases
HP:0010550Paraplegia
HP:0010580Enlarged epiphyses
HP:0010624Aplastic/hypoplastic toenail
HP:0010761Broad columella
HP:0011220Prominent forehead
Периодический (5–29%)5
HP:0000233Thin vermilion border
HP:0001250Seizure
HP:0001629Ventricular septal defect
HP:0002558Supernumerary nipple
HP:0006101Finger syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 29 | 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)