Weiss-Kruszka Syndrome
ORPHA:502430Malformation syndromeAutosomal dominantAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)29
Очень частый (80–99%)1
HP:0000508Ptosis
Частый (30–79%)15
HP:0000286Epicanthus
HP:0000289Broad philtrum
HP:0000356Abnormality of the outer ear
HP:0000494Downslanted palpebral fissures
HP:0000729Autistic behavior
HP:0000750Delayed speech and language development
HP:0001252Hypotonia
HP:0001270Motor delay
HP:0002263Exaggerated cupid's bow
HP:0002553Highly arched eyebrow
HP:0003196Short nose
HP:0005274Prominent nasal tip
HP:0005487Prominent metopic ridge
HP:0011968Feeding difficulties
HP:0012758Neurodevelopmental delay
Периодический (5–29%)12
HP:0000028Cryptorchidism
HP:0000316Hypertelorism
HP:0000365Hearing impairment
HP:0000369Low-set ears
HP:0000824Decreased response to growth hormone stimulation test
HP:0000954Single transverse palmar crease
HP:0001627Abnormal heart morphology
HP:0002870Obstructive sleep apnea
HP:0004209Clinodactyly of the 5th finger
HP:0006989Dysplastic corpus callosum
HP:0033454Tube feeding
HP:0040064Abnormality of limbs
Очень редкий (1–4%)1
HP:0009623Proximal placement of thumb
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)