Intellectual disability-brachydactyly-Pierre Robin syndrome
ORPHA:364577Malformation syndromeNeonatal
Фенотипы (HPO)43
Частый (30–79%)11
HP:0000175Cleft palate
HP:0000201Pierre-Robin sequence
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000430Underdeveloped nasal alae
HP:0001156Brachydactyly
HP:0001256Intellectual disability, mild
HP:0001263Global developmental delay
HP:0002263Exaggerated cupid's bow
HP:0011341Long upper lip
HP:0012745Short palpebral fissure
Периодический (5–29%)32
HP:0000171Microglossia
HP:0000232Everted lower lip vermilion
HP:0000365Hearing impairment
HP:0000385Small earlobe
HP:0000414Bulbous nose
HP:0000426Prominent nasal bridge
HP:0000506Telecanthus
HP:0000568Microphthalmia
HP:0000639Nystagmus
HP:0000664Synophrys
HP:0000677Oligodontia
HP:0000957Cafe-au-lait spot
HP:0000996Facial capillary hemangioma
HP:0001252Hypotonia
HP:0001508Failure to thrive
HP:0001511Intrauterine growth retardation
HP:0001562Oligohydramnios
HP:0001792Small nail
HP:0002000Short columella
HP:0003196Short nose
HP:0005487Prominent metopic ridge
HP:0006289Agenesis of central incisor
HP:0007957Corneal opacity
HP:0009246Aplasia of the distal phalanx of the 5th finger
HP:0010752Cleft mandible
HP:0010804Tented upper lip vermilion
HP:0011078Abnormality of canine
HP:0011401Delayed peripheral myelination
HP:0012370Prominence of the zygomatic bone
HP:0030680Abnormal cardiovascular system morphology
HP:0045074Thin eyebrow
HP:0100380Aplasia of the distal phalanx of the 5th toe
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 4 | 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)