Gorlin-Chaudhry-Moss syndrome
ORPHA:2095Clinical subtypeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)28
Очень частый (80–99%)19
HP:0000164Abnormality of the dentition
HP:0000248Brachycephaly
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000405Conductive hearing impairment
HP:0000478Abnormality of the eye
HP:0000492Abnormal eyelid morphology
HP:0000504Abnormality of vision
HP:0000639Nystagmus
HP:0000677Oligodontia
HP:0001760Abnormal foot morphology
HP:0002208Coarse hair
HP:0002230Generalized hirsutism
HP:0004322Short stature
HP:0004440Coronal craniosynostosis
HP:0005916Abnormal metacarpal morphology
HP:0008497Congenital craniofacial dysostosis
HP:0009882Short distal phalanx of finger
HP:0009891Underdeveloped supraorbital ridges
Частый (30–79%)7
HP:0000327Hypoplasia of the maxilla
HP:0000483Astigmatism
HP:0000647Sclerocornea
HP:0000929Abnormal skull morphology
HP:0001537Umbilical hernia
HP:0001643Patent ductus arteriosus
HP:0010940Aplasia/Hypoplasia of the nasal bone
Периодический (5–29%)2
HP:0000636Upper eyelid coloboma
HP:0001256Intellectual disability, mild
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)