Phelan-McDermid syndrome
ORPHA:48652Malformation syndromeNot applicable, UnknownInfancy, Neonatal
Фенотипы (HPO)51
Очень частый (80–99%)7
HP:0000400Macrotia
HP:0000750Delayed speech and language development
HP:0001319Neonatal hypotonia
HP:0001800Hypoplastic toenails
HP:0003763Bruxism
HP:0005616Accelerated skeletal maturation
HP:0007328Impaired pain sensation
Частый (30–79%)19
HP:0000268Dolichocephaly
HP:0000272Malar flattening
HP:0000293Full cheeks
HP:0000307Pointed chin
HP:0000414Bulbous nose
HP:0000431Wide nasal bridge
HP:0000490Deeply set eye
HP:0000508Ptosis
HP:0000527Long eyelashes
HP:0000574Thick eyebrow
HP:0000729Autistic behavior
HP:0000752Hyperactivity
HP:0000960Sacral dimple
HP:0000966Hypohidrosis
HP:0001176Large hands
HP:0002360Sleep abnormality
HP:0002721Immunodeficiency
HP:0011968Feeding difficulties
HP:0100540Palpebral edema
Периодический (5–29%)25
HP:0000076Vesicoureteral reflux
HP:0000110Renal dysplasia
HP:0000126Hydronephrosis
HP:0000256Macrocephaly
HP:0000286Epicanthus
HP:0000365Hearing impairment
HP:0000486Strabismus
HP:0000540Hypermetropia
HP:0000678Dental crowding
HP:0000689Dental malocclusion
HP:0001004Lymphedema
HP:0001249Intellectual disability
HP:0001250Seizure
HP:0001263Global developmental delay
HP:0001274Agenesis of corpus callosum
HP:0001513Obesity
HP:0001537Umbilical hernia
HP:0001581Recurrent skin infections
HP:0002017Nausea and vomiting
HP:0002020Gastroesophageal reflux
HP:0004209Clinodactyly of the 5th finger
HP:0008278Cerebellar cortical atrophy
HP:0012167Hair-pulling
HP:0012787Recurrent pyelonephritis
HP:0100702Arachnoid cyst
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 200 | Worldwide | Case(s) |
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)