Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
ORPHA:457359Malformation syndromeAutosomal recessiveNeonatal
Ассоциированные гены1
Фенотипы (HPO)54
Очень частый (80–99%)9
HP:0000276Long face
HP:0000316Hypertelorism
HP:0001166Arachnodactyly
HP:0001252Hypotonia
HP:0001548Overgrowth
HP:0010864Intellectual disability, severe
HP:0011220Prominent forehead
HP:0011229Broad eyebrow
HP:0045075Sparse eyebrow
Частый (30–79%)21
HP:0001355Megalencephaly
HP:0001519Disproportionate tall stature
HP:0001520Large for gestational age
HP:0001533Slender build
HP:0001833Long foot
HP:0001999Abnormal facial shape
HP:0002066Gait ataxia
HP:0002069Bilateral tonic-clonic seizure
HP:0002307Drooling
HP:0002751Kyphoscoliosis
HP:0000218High palate
HP:0000256Macrocephaly
HP:0000303Mandibular prognathia
HP:0000358Posteriorly rotated ears
HP:0000400Macrotia
HP:0000494Downslanted palpebral fissures
HP:0000520Proptosis
HP:0000582Upslanted palpebral fissure
HP:0001263Global developmental delay
HP:0001288Gait disturbance
HP:0001344Absent speech
Периодический (5–29%)24
HP:0000054Micropenis
HP:0000272Malar flattening
HP:0000297Facial hypotonia
HP:0000325Triangular face
HP:0000426Prominent nasal bridge
HP:0000472Long neck
HP:0000586Shallow orbits
HP:0001321Cerebellar hypoplasia
HP:0001334Communicating hydrocephalus
HP:0001376Limitation of joint mobility
HP:0001382Joint hypermobility
HP:0001555Asymmetry of the thorax
HP:0001763Pes planus
HP:0001998Neonatal hypoglycemia
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0002808Kyphosis
HP:0002938Lumbar hyperlordosis
HP:0006863Severe expressive language delay
HP:0007074Thick corpus callosum
HP:0007204Diffuse white matter abnormalities
HP:0011003High myopia
HP:0011330Metopic synostosis
HP:0012760Reduced social responsiveness
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 2 | 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)