Peters plus syndrome
ORPHA:709Malformation syndromeAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)83
Очень частый (80–99%)22
HP:0000219Thin upper lip vermilion
HP:0000248Brachycephaly
HP:0000276Long face
HP:0000311Round face
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000470Short neck
HP:0000501Glaucoma
HP:0000659Peters anomaly
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0001511Intrauterine growth retardation
HP:0001773Short foot
HP:0001831Short toe
HP:0002000Short columella
HP:0002263Exaggerated cupid's bow
HP:0002983Micromelia
HP:0004209Clinodactyly of the 5th finger
HP:0007833Anterior chamber synechiae
HP:0007957Corneal opacity
HP:0008873Disproportionate short-limb short stature
Частый (30–79%)27
HP:0000047Hypospadias
HP:0000175Cleft palate
HP:0000204Cleft upper lip
HP:0000238Hydrocephalus
HP:0000316Hypertelorism
HP:0000384Preauricular skin tag
HP:0000465Webbed neck
HP:0000482Microcornea
HP:0000504Abnormality of vision
HP:0000518Cataract
HP:0000582Upslanted palpebral fissure
HP:0000639Nystagmus
HP:0000687Widely spaced teeth
HP:0001558Decreased fetal movement
HP:0001642Pulmonic stenosis
HP:0001671Abnormal cardiac septum morphology
HP:0001770Toe syndactyly
HP:0002007Frontal bossing
HP:0004322Short stature
HP:0004414Abnormality of the pulmonary artery
HP:0004467Preauricular pit
HP:0008569Microtia, second degree
HP:0008872Feeding difficulties in infancy
HP:0008897Postnatal growth retardation
HP:0011220Prominent forehead
HP:0012745Short palpebral fissure
HP:0000028Cryptorchidism
Периодический (5–29%)31
HP:0000003Multicystic kidney dysplasia
HP:0000013Hypoplasia of the uterus
HP:0000023Inguinal hernia
HP:0000060Clitoral hypoplasia
HP:0000073Ureteral duplication
HP:0000075Renal duplication
HP:0000126Hydronephrosis
HP:0000154Wide mouth
HP:0000252Microcephaly
HP:0000405Conductive hearing impairment
HP:0000463Anteverted nares
HP:0000505Visual impairment
HP:0000648Optic atrophy
HP:0000830Anterior hypopituitarism
HP:0000851Congenital hypothyroidism
HP:0000960Sacral dimple
HP:0001537Umbilical hernia
HP:0001561Polyhydramnios
HP:0001643Patent ductus arteriosus
HP:0002023Anal atresia
HP:0002119Ventriculomegaly
HP:0002120Cerebral cortical atrophy
HP:0003196Short nose
HP:0003298Spina bifida occulta
HP:0005280Depressed nasal bridge
HP:0006610Wide intermamillary distance
HP:0007370Aplasia/Hypoplasia of the corpus callosum
HP:0008678Renal hypoplasia/aplasia
HP:0008905Rhizomelia
HP:0100819Intestinal fistula
HP:0000358Posteriorly rotated ears
Очень редкий (1–4%)3
HP:0004383Hypoplastic left heart
HP:0005182Bicuspid pulmonary valve
HP:0030968Abnormal pulmonary vein morphology
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)