Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
ORPHA:1969Malformation syndromeUnknownNo data available
Фенотипы (HPO)21
Очень частый (80–99%)8
HP:0000463Anteverted nares
HP:0000508Ptosis
HP:0002039Anorexia
HP:0002970Genu varum
HP:0004122Midline defect of the nose
HP:0004322Short stature
HP:0004326Cachexia
HP:0006101Finger syndactyly
Частый (30–79%)11
HP:0000767Pectus excavatum
HP:0000820Abnormality of the thyroid gland
HP:0000995Melanocytic nevus
HP:0001555Asymmetry of the thorax
HP:0001608Abnormality of the voice
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0003202Skeletal muscle atrophy
HP:0007565Multiple cafe-au-lait spots
HP:0007703Abnormality of retinal pigmentation
HP:0010290Short hard palate
Периодический (5–29%)2
HP:0001633Abnormal mitral valve morphology
HP:0007513Generalized hypopigmentation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 3 | 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)