Malan overgrowth syndrome
ORPHA:420179Malformation syndromeAutosomal dominant, UnknownInfancy
Ассоциированные гены1
Фенотипы (HPO)38
Очень частый (80–99%)1
HP:0005616Accelerated skeletal maturation
Частый (30–79%)16
HP:0000098Tall stature
HP:0000256Macrocephaly
HP:0000275Narrow face
HP:0000300Oval face
HP:0000348High forehead
HP:0000486Strabismus
HP:0000494Downslanted palpebral fissures
HP:0000767Pectus excavatum
HP:0001319Neonatal hypotonia
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002162Low posterior hairline
HP:0002342Intellectual disability, moderate
HP:0003100Slender long bone
HP:0008872Feeding difficulties in infancy
HP:0011220Prominent forehead
Периодический (5–29%)21
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000307Pointed chin
HP:0000324Facial asymmetry
HP:0000490Deeply set eye
HP:0000543Optic disc pallor
HP:0000639Nystagmus
HP:0000739Anxiety
HP:0001250Seizure
HP:0001256Intellectual disability, mild
HP:0001357Plagiocephaly
HP:0002007Frontal bossing
HP:0002076Migraine
HP:0002131Episodic ataxia
HP:0002365Hypoplasia of the brainstem
HP:0002650Scoliosis
HP:0005280Depressed nasal bridge
HP:0006956Dilation of lateral ventricles
HP:0007766Optic disc hypoplasia
HP:0010864Intellectual disability, severe
HP:0030799Scaphocephaly
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 20 | 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)