Aarskog-Scott syndrome
ORPHA:915Malformation syndromeAutosomal dominant, Autosomal recessive, X-linked recessiveChildhood
Ассоциированные гены1
Фенотипы (HPO)49
Очень частый (80–99%)11
HP:0000049Shawl scrotum
HP:0000232Everted lower lip vermilion
HP:0000316Hypertelorism
HP:0001169Broad palm
HP:0001537Umbilical hernia
HP:0001769Broad foot
HP:0001773Short foot
HP:0004279Short palm
HP:0004322Short stature
HP:0100490Camptodactyly of finger
HP:0200055Small hand
Частый (30–79%)16
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000463Anteverted nares
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000974Hyperextensible skin
HP:0004209Clinodactyly of the 5th finger
HP:0006101Finger syndactyly
HP:0009890High anterior hairline
HP:0100543Cognitive impairment
HP:0000377Abnormal pinna morphology
HP:0001382Joint hypermobility
HP:0000358Posteriorly rotated ears
Периодический (5–29%)22
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000202Orofacial cleft
HP:0000204Cleft upper lip
HP:0000286Epicanthus
HP:0000311Round face
HP:0000327Hypoplasia of the maxilla
HP:0000470Short neck
HP:0000485Megalocornea
HP:0000486Strabismus
HP:0000684Delayed eruption of teeth
HP:0000708Atypical behavior
HP:0000767Pectus excavatum
HP:0000954Single transverse palmar crease
HP:0001635Congestive heart failure
HP:0001763Pes planus
HP:0001883Talipes
HP:0002816Genu recurvatum
HP:0003319Abnormality of the cervical spine
HP:0005640Abnormal vertebral segmentation and fusion
HP:0007018Attention deficit hyperactivity disorder
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Prevalence at birth | 1-9 / 1 000 000 | 0.5 | Europe | Value and class |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)