Short stature-craniofacial anomalies-genital hypoplasia syndrome
ORPHA:2994Malformation syndromeInfancy, Neonatal
Фенотипы (HPO)28
Очень частый (80–99%)13
HP:0000358Posteriorly rotated ears
HP:0000243Trigonocephaly
HP:0000286Epicanthus
HP:0000308Microretrognathia
HP:0000823Delayed puberty
HP:0001249Intellectual disability
HP:0002007Frontal bossing
HP:0004322Short stature
HP:0008046Abnormal retinal vascular morphology
HP:0008499High hypermetropia
HP:0008551Microtia
HP:0009775Amniotic constriction ring
HP:0012368Flat face
Частый (30–79%)10
HP:0000164Abnormality of the dentition
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000470Short neck
HP:0000821Hypothyroidism
HP:0001166Arachnodactyly
HP:0001376Limitation of joint mobility
HP:0006101Finger syndactyly
HP:0030680Abnormal cardiovascular system morphology
Периодический (5–29%)5
HP:0000494Downslanted palpebral fissures
HP:0001199Triphalangeal thumb
HP:0004397Ectopic anus
HP:0009882Short distal phalanx of finger
HP:0100490Camptodactyly of finger
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | Worldwide | Family(ies) |
| 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)