Focal facial dermal dysplasia type III
ORPHA:1807Clinical subtypeAutosomal dominant, Autosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)23
Очень частый (80–99%)9
HP:0000457Depressed nasal ridge
HP:0001582Redundant skin
HP:0002714Downturned corners of mouth
HP:0007495Prematurely aged appearance
HP:0008065Aplasia/Hypoplasia of the skin
HP:0008070Sparse hair
HP:0010720Abnormal hair pattern
HP:0010751Chin dimple
HP:0100781Abnormality of the sacroiliac joint
Частый (30–79%)9
HP:0000286Epicanthus
HP:0000322Short philtrum
HP:0000431Wide nasal bridge
HP:0002023Anal atresia
HP:0002553Highly arched eyebrow
HP:0005338Sparse lateral eyebrow
HP:0007776Sparse lower eyelashes
HP:0009743Distichiasis
HP:0010935Abnormality of the upper urinary tract
Периодический (5–29%)5
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000632Lacrimation abnormality
HP:0001053Hypopigmented skin patches
HP:0007565Multiple cafe-au-lait spots
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
| Cases/families | — | 20 | Worldwide | Case(s) |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)