Progeroid syndrome, Petty type
ORPHA:2963Clinical subtypeAutosomal dominantNeonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)28
HP:0000232Everted lower lip vermilion
HP:0000260Wide anterior fontanel
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000337Broad forehead
HP:0000486Strabismus
HP:0000574Thick eyebrow
HP:0000973Cutis laxa
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001537Umbilical hernia
HP:0001582Redundant skin
HP:0001595Abnormality of the hair
HP:0001597Abnormality of the nail
HP:0002230Generalized hirsutism
HP:0002299Brittle hair
HP:0003758Reduced subcutaneous adipose tissue
HP:0004322Short stature
HP:0004331Decreased skull ossification
HP:0007477Abnormal dermatoglyphics
HP:0007495Prematurely aged appearance
HP:0007740Long eyelashes in irregular rows
HP:0008070Sparse hair
HP:0009721Shagreen patch
HP:0009804Tooth agenesis
HP:0009882Short distal phalanx of finger
HP:0100578Lipoatrophy
HP:0000358Posteriorly rotated ears
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 1 | 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)