8q22.1 microdeletion syndrome
ORPHA:178303Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)32
Очень частый (80–99%)17
HP:0000028Cryptorchidism
HP:0000298Mask-like facies
HP:0000343Long philtrum
HP:0000369Low-set ears
HP:0000377Abnormal pinna morphology
HP:0000431Wide nasal bridge
HP:0000457Depressed nasal ridge
HP:0000506Telecanthus
HP:0000581Blepharophimosis
HP:0002553Highly arched eyebrow
HP:0008577Underfolded helix
HP:0009738Abnormality of the antihelix
HP:0010720Abnormal hair pattern
HP:0010781Skin dimple
HP:0045075Sparse eyebrow
HP:0100024Conspicuously happy disposition
HP:0100679Lack of skin elasticity
Частый (30–79%)10
HP:0000135Hypogonadism
HP:0000164Abnormality of the dentition
HP:0000252Microcephaly
HP:0000327Hypoplasia of the maxilla
HP:0000470Short neck
HP:0001263Global developmental delay
HP:0001376Limitation of joint mobility
HP:0001852Sandal gap
HP:0006610Wide intermamillary distance
HP:0100490Camptodactyly of finger
Периодический (5–29%)5
HP:0000176Submucous cleft hard palate
HP:0000653Sparse eyelashes
HP:0001363Craniosynostosis
HP:0005288Abnormality of the nares
HP:0006101Finger syndactyly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | 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)