Pierpont syndrome
ORPHA:487825Malformation syndromeAutosomal dominantInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)48
Очень частый (80–99%)10
HP:0000232Everted lower lip vermilion
HP:0000470Short neck
HP:0000687Widely spaced teeth
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001763Pes planus
HP:0006191Deep palmar crease
HP:0007552Abnormal subcutaneous fat tissue distribution
HP:0012811Wide nasal ridge
HP:0045025Narrow palpebral fissure
Частый (30–79%)24
HP:0000233Thin vermilion border
HP:0000248Brachycephaly
HP:0000289Broad philtrum
HP:0000316Hypertelorism
HP:0000319Smooth philtrum
HP:0000348High forehead
HP:0000358Posteriorly rotated ears
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000490Deeply set eye
HP:0000506Telecanthus
HP:0001212Prominent fingertip pads
HP:0001518Small for gestational age
HP:0001831Short toe
HP:0002650Scoliosis
HP:0006610Wide intermamillary distance
HP:0007367Atrophy/Degeneration affecting the central nervous system
HP:0007605Excessive wrinkling of palmar skin
HP:0009381Short finger
HP:0009909Uplifted earlobe
HP:0011341Long upper lip
HP:0011451Congenital microcephaly
HP:0100872Abnormality of the plantar skin of foot
HP:0410263Brain imaging abnormality
Периодический (5–29%)14
HP:0000028Cryptorchidism
HP:0000219Thin upper lip vermilion
HP:0000272Malar flattening
HP:0000400Macrotia
HP:0000482Microcornea
HP:0000568Microphthalmia
HP:0001344Absent speech
HP:0001382Joint hypermobility
HP:0002119Ventriculomegaly
HP:0002308Chiari malformation
HP:0002536Abnormal cortical gyration
HP:0009890High anterior hairline
HP:0011344Severe global developmental delay
HP:0012043Pendular nystagmus
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 7 | 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)