Brachydactyly-short stature-retinitis pigmentosa syndrome
ORPHA:166035Malformation syndromeAutosomal recessiveChildhood, Infancy
Ассоциированные гены1
Фенотипы (HPO)46
Очень частый (80–99%)5
HP:0000546Retinal degeneration
HP:0000707Abnormality of the nervous system
HP:0001156Brachydactyly
HP:0001999Abnormal facial shape
HP:0004322Short stature
Частый (30–79%)6
HP:0000510Rod-cone dystrophy
HP:0000662Nyctalopia
HP:0000750Delayed speech and language development
HP:0001249Intellectual disability
HP:0001263Global developmental delay
HP:0011968Feeding difficulties
Периодический (5–29%)35
HP:0000023Inguinal hernia
HP:0000028Cryptorchidism
HP:0000085Horseshoe kidney
HP:0000107Renal cyst
HP:0000347Micrognathia
HP:0000369Low-set ears
HP:0000400Macrotia
HP:0000430Underdeveloped nasal alae
HP:0000494Downslanted palpebral fissures
HP:0000512Abnormal electroretinogram
HP:0000561Absent eyelashes
HP:0000818Abnormality of the endocrine system
HP:0000957Cafe-au-lait spot
HP:0001123Visual field defect
HP:0001319Neonatal hypotonia
HP:0001363Craniosynostosis
HP:0001511Intrauterine growth retardation
HP:0001596Alopecia
HP:0001629Ventricular septal defect
HP:0001763Pes planus
HP:0001792Small nail
HP:0001822Hallux valgus
HP:0002007Frontal bossing
HP:0002120Cerebral cortical atrophy
HP:0002194Delayed gross motor development
HP:0002223Absent eyebrow
HP:0002342Intellectual disability, moderate
HP:0005345Abnormal vena cava morphology
HP:0005871Metaphyseal chondrodysplasia
HP:0007099Chiari type I malformation
HP:0008064Ichthyosis
HP:0010049Short metacarpal
HP:0010761Broad columella
HP:0030148Heart murmur
HP:0030455Abnormality of pattern visual evoked potentials
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)