Roifman syndrome
ORPHA:353298DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)39
Частый (30–79%)37
HP:0000044Hypogonadotropic hypogonadism
HP:0000219Thin upper lip vermilion
HP:0000252Microcephaly
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000403Recurrent otitis media
HP:0000430Underdeveloped nasal alae
HP:0000446Narrow nasal bridge
HP:0000556Retinal dystrophy
HP:0000637Long palpebral fissure
HP:0000964Eczematoid dermatitis
HP:0001156Brachydactyly
HP:0001290Generalized hypotonia
HP:0001433Hepatosplenomegaly
HP:0001511Intrauterine growth retardation
HP:0001795Hyperconvex nail
HP:0001831Short toe
HP:0001880Eosinophilia
HP:0002079Hypoplasia of the corpus callosum
HP:0002342Intellectual disability, moderate
HP:0002655Spondyloepiphyseal dysplasia
HP:0002656Epiphyseal dysplasia
HP:0002714Downturned corners of mouth
HP:0002716Lymphadenopathy
HP:0003273Hip contracture
HP:0004209Clinodactyly of the 5th finger
HP:0004313Decreased circulating antibody level
HP:0004322Short stature
HP:0004625Biconvex vertebral bodies
HP:0005041Irregular capital femoral epiphysis
HP:0006532Recurrent pneumonia
HP:0007598Bilateral single transverse palmar creases
HP:0008804Broad femoral head
HP:0008828Delayed proximal femoral epiphyseal ossification
HP:0008897Postnatal growth retardation
HP:0011231Prominent eyelashes
HP:0410170Hippocampal atrophy
Очень редкий (1–4%)1
HP:0012817Noncompaction cardiomyopathy
Исключён (0%)1
HP:0005419Decreased T cell activation
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 17 | 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)