Wiedemann-Steiner syndrome
ORPHA:319182Malformation syndromeAutosomal dominantChildhood, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)58
Очень частый (80–99%)1
HP:0000750Delayed speech and language development
Частый (30–79%)27
HP:0000219Thin upper lip vermilion
HP:0000311Round face
HP:0000316Hypertelorism
HP:0000324Facial asymmetry
HP:0000343Long philtrum
HP:0000431Wide nasal bridge
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000708Atypical behavior
HP:0000718Aggressive behavior
HP:0000733Abnormal repetitive mannerisms
HP:0000736Short attention span
HP:0000739Anxiety
HP:0000744Low frustration tolerance
HP:0000752Hyperactivity
HP:0000824Decreased response to growth hormone stimulation test
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0002015Dysphagia
HP:0002194Delayed gross motor development
HP:0002750Delayed skeletal maturation
HP:0004540Congenital, generalized hypertrichosis
HP:0005616Accelerated skeletal maturation
HP:0008897Postnatal growth retardation
HP:0009811Abnormality of the elbow
HP:0011968Feeding difficulties
HP:0012745Short palpebral fissure
Периодический (5–29%)30
HP:0000218High palate
HP:0000252Microcephaly
HP:0000268Dolichocephaly
HP:0000286Epicanthus
HP:0000348High forehead
HP:0000369Low-set ears
HP:0000465Webbed neck
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000664Synophrys
HP:0000767Pectus excavatum
HP:0000960Sacral dimple
HP:0001155Abnormality of the hand
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001273Abnormal corpus callosum morphology
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0002020Gastroesophageal reflux
HP:0002230Generalized hirsutism
HP:0002361Psychomotor deterioration
HP:0003196Short nose
HP:0004209Clinodactyly of the 5th finger
HP:0004322Short stature
HP:0006712Aplasia/Hypoplasia of the ribs
HP:0008905Rhizomelia
HP:0010485Hyperextensibility at elbow
HP:0012368Flat face
HP:0030084Clinodactyly
HP:0100581Dilatation of renal calices
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 84 | 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)