Ruvalcaba syndrome
ORPHA:3121Malformation syndromeUnknownInfancy, Neonatal
Фенотипы (HPO)36
Очень частый (80–99%)18
HP:0000160Narrow mouth
HP:0000233Thin vermilion border
HP:0000252Microcephaly
HP:0000444Convex nasal ridge
HP:0000494Downslanted palpebral fissures
HP:0000508Ptosis
HP:0000678Dental crowding
HP:0001156Brachydactyly
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0002808Kyphosis
HP:0002983Micromelia
HP:0003196Short nose
HP:0005048Synostosis of carpal bones
HP:0009623Proximal placement of thumb
HP:0010049Short metacarpal
HP:0010579Cone-shaped epiphysis
HP:0200055Small hand
Частый (30–79%)8
HP:0000028Cryptorchidism
HP:0000348High forehead
HP:0000768Pectus carinatum
HP:0000774Narrow chest
HP:0001511Intrauterine growth retardation
HP:0002650Scoliosis
HP:0009811Abnormality of the elbow
HP:0100734Abnormality of vertebral epiphysis morphology
Периодический (5–29%)10
HP:0000023Inguinal hernia
HP:0000512Abnormal electroretinogram
HP:0000649Abnormality of visual evoked potentials
HP:0000790Hematuria
HP:0000823Delayed puberty
HP:0001053Hypopigmented skin patches
HP:0001250Seizure
HP:0002230Generalized hirsutism
HP:0004209Clinodactyly of the 5th finger
HP:0100542Abnormal localization of kidney
Эпидемиология1
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Point prevalence | Unknown | — | Worldwide | Class only |
Лекарства и терапия
Источник: Open Targets Platform (в реальном времени)
Клинические исследования
Источник: ClinicalTrials.gov (в реальном времени)