Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
ORPHA:459061Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены2
Фенотипы (HPO)40
Очень частый (80–99%)6
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0002209Sparse scalp hair
HP:0004322Short stature
HP:0011220Prominent forehead
HP:0045075Sparse eyebrow
Частый (30–79%)10
HP:0000077Abnormality of the kidney
HP:0000238Hydrocephalus
HP:0000243Trigonocephaly
HP:0001305Dandy-Walker malformation
HP:0001320Cerebellar vermis hypoplasia
HP:0001763Pes planus
HP:0001800Hypoplastic toenails
HP:0005280Depressed nasal bridge
HP:0007291Posterior fossa cyst
HP:0012385Camptodactyly
Периодический (5–29%)24
HP:0000023Inguinal hernia
HP:0000175Cleft palate
HP:0000248Brachycephaly
HP:0000286Epicanthus
HP:0000316Hypertelorism
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000494Downslanted palpebral fissures
HP:0000687Widely spaced teeth
HP:0000739Anxiety
HP:0000805Enuresis
HP:0001250Seizure
HP:0001274Agenesis of corpus callosum
HP:0001631Atrial septal defect
HP:0001650Aortic valve stenosis
HP:0001970Tubulointerstitial nephritis
HP:0004442Sagittal craniosynostosis
HP:0004482Relative macrocephaly
HP:0007018Attention deficit hyperactivity disorder
HP:0007598Bilateral single transverse palmar creases
HP:0010535Sleep apnea
HP:0012712Mild hearing impairment
HP:0030799Scaphocephaly
HP:0200055Small hand
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 8 | 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)