Overgrowth-macrocephaly-facial dysmorphism syndrome
ORPHA:137634Malformation syndromeAutosomal dominantAntenatal, Infancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)26
Очень частый (80–99%)11
HP:0000098Tall stature
HP:0000179Thick lower lip vermilion
HP:0000219Thin upper lip vermilion
HP:0000256Macrocephaly
HP:0000337Broad forehead
HP:0000343Long philtrum
HP:0000455Broad nasal tip
HP:0000494Downslanted palpebral fissures
HP:0001520Large for gestational age
HP:0001548Overgrowth
HP:0001999Abnormal facial shape
Периодический (5–29%)15
HP:0000267Cranial asymmetry
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000609Optic nerve hypoplasia
HP:0000729Autistic behavior
HP:0000766Abnormal sternum morphology
HP:0000768Pectus carinatum
HP:0001256Intellectual disability, mild
HP:0001641Abnormal pulmonary valve morphology
HP:0001642Pulmonic stenosis
HP:0005616Accelerated skeletal maturation
HP:0008058Aplasia/Hypoplasia of the optic nerve
HP:0011098Speech apraxia
HP:0012741Unilateral cryptorchidism
HP:0030680Abnormal cardiovascular system morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 6 | Worldwide | Family(ies) |
| 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)