Perlman syndrome
ORPHA:2849Malformation syndromeAutosomal recessiveAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)17
HP:0000098Tall stature
HP:0000177Abnormality of upper lip
HP:0000194Open mouth
HP:0000256Macrocephaly
HP:0000278Retrognathia
HP:0000311Round face
HP:0000319Smooth philtrum
HP:0000347Micrognathia
HP:0000348High forehead
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001263Global developmental delay
HP:0001328Specific learning disability
HP:0002240Hepatomegaly
HP:0003196Short nose
Частый (30–79%)12
HP:0000028Cryptorchidism
HP:0000187Broad alveolar ridges
HP:0000286Epicanthus
HP:0000358Posteriorly rotated ears
HP:0000369Low-set ears
HP:0000391Thickened helices
HP:0000463Anteverted nares
HP:0000842Hyperinsulinemia
HP:0002667Nephroblastoma
HP:0002705High, narrow palate
HP:0008736Hypoplasia of penis
HP:0012090Abnormal pancreas morphology
Периодический (5–29%)9
HP:0000023Inguinal hernia
HP:0000268Dolichocephaly
HP:0000508Ptosis
HP:0001250Seizure
HP:0002133Status epilepticus
HP:0005306Capillary hemangioma
HP:0007598Bilateral single transverse palmar creases
HP:0010733Naevus flammeus of the eyelid
HP:0100541Femoral hernia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 32 | 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)