2p15p16.1 microdeletion syndrome
ORPHA:261349Malformation syndromeNot applicableAntenatal, Infancy, Neonatal
Фенотипы (HPO)77
Очень частый (80–99%)18
HP:0000431Wide nasal bridge
HP:0000494Downslanted palpebral fissures
HP:0000506Telecanthus
HP:0000508Ptosis
HP:0000581Blepharophimosis
HP:0000609Optic nerve hypoplasia
HP:0000648Optic atrophy
HP:0000750Delayed speech and language development
HP:0001263Global developmental delay
HP:0002342Intellectual disability, moderate
HP:0000160Narrow mouth
HP:0000218High palate
HP:0000232Everted lower lip vermilion
HP:0000252Microcephaly
HP:0000286Epicanthus
HP:0000319Smooth philtrum
HP:0000343Long philtrum
HP:0000426Prominent nasal bridge
Частый (30–79%)25
HP:0000126Hydronephrosis
HP:0000248Brachycephaly
HP:0000278Retrognathia
HP:0000340Sloping forehead
HP:0000341Narrow forehead
HP:0000369Low-set ears
HP:0000411Protruding ear
HP:0000486Strabismus
HP:0000505Visual impairment
HP:0000527Long eyelashes
HP:0000717Autism
HP:0000729Autistic behavior
HP:0001182Tapered finger
HP:0001252Hypotonia
HP:0001290Generalized hypotonia
HP:0001508Failure to thrive
HP:0001510Growth delay
HP:0001511Intrauterine growth retardation
HP:0001840Metatarsus adductus
HP:0002061Lower limb spasticity
HP:0002205Recurrent respiratory infections
HP:0005274Prominent nasal tip
HP:0006610Wide intermamillary distance
HP:0007018Attention deficit hyperactivity disorder
HP:0100490Camptodactyly of finger
Периодический (5–29%)34
HP:0000003Multicystic kidney dysplasia
HP:0000023Inguinal hernia
HP:0000098Tall stature
HP:0000135Hypogonadism
HP:0000348High forehead
HP:0000365Hearing impairment
HP:0000767Pectus excavatum
HP:0000771Gynecomastia
HP:0001260Dysarthria
HP:0001288Gait disturbance
HP:0001321Cerebellar hypoplasia
HP:0001561Polyhydramnios
HP:0001601Laryngomalacia
HP:0001611Hypernasal speech
HP:0001653Mitral regurgitation
HP:0001659Aortic regurgitation
HP:0001763Pes planus
HP:0001852Sandal gap
HP:0001863Toe clinodactyly
HP:0002015Dysphagia
HP:0002119Ventriculomegaly
HP:0002213Fine hair
HP:0002353EEG abnormality
HP:0002558Supernumerary nipple
HP:0002650Scoliosis
HP:0002808Kyphosis
HP:0002999Patellar dislocation
HP:0005487Prominent metopic ridge
HP:0007598Bilateral single transverse palmar creases
HP:0008734Decreased testicular size
HP:0010628Facial palsy
HP:0011968Feeding difficulties
HP:0045075Sparse eyebrow
HP:0100625Enlarged thorax
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 11 | 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)