Say-Barber-Miller syndrome
ORPHA:3132Malformation syndromeUnknownAntenatal, Infancy, Neonatal
Фенотипы (HPO)57
Очень частый (80–99%)4
HP:0000252Microcephaly
HP:0001263Global developmental delay
HP:0001999Abnormal facial shape
HP:0005432Transient hypogammaglobulinemia of infancy
Частый (30–79%)20
HP:0000135Hypogonadism
HP:0000218High palate
HP:0000340Sloping forehead
HP:0000347Micrognathia
HP:0000400Macrotia
HP:0000411Protruding ear
HP:0000426Prominent nasal bridge
HP:0000444Convex nasal ridge
HP:0000750Delayed speech and language development
HP:0001363Craniosynostosis
HP:0002650Scoliosis
HP:0002654Multiple epiphyseal dysplasia
HP:0002987Elbow flexion contracture
HP:0003065Patellar hypoplasia
HP:0004313Decreased circulating antibody level
HP:0005001Recurrent patellar dislocation
HP:0006380Knee flexion contracture
HP:0012219Erythema nodosum
HP:0012490Panniculitis
HP:0040238Impaired neutrophil chemotaxis
Периодический (5–29%)33
HP:0000028Cryptorchidism
HP:0000233Thin vermilion border
HP:0000316Hypertelorism
HP:0000455Broad nasal tip
HP:0000490Deeply set eye
HP:0000510Rod-cone dystrophy
HP:0000582Upslanted palpebral fissure
HP:0000608Macular degeneration
HP:0000648Optic atrophy
HP:0000670Carious teeth
HP:0000692Tooth malposition
HP:0000964Eczematoid dermatitis
HP:0001007Hirsutism
HP:0001193Ulnar deviation of the hand or of fingers of the hand
HP:0001583Rotary nystagmus
HP:0001772Talipes equinovalgus
HP:0002313Spastic paraparesis
HP:0002553Highly arched eyebrow
HP:0002827Hip dislocation
HP:0002843Abnormal T cell morphology
HP:0003487Babinski sign
HP:0004315Decreased circulating IgG level
HP:0004322Short stature
HP:0005659Thoracic kyphoscoliosis
HP:0006895Lower limb hypertonia
HP:0007034Generalized hyperreflexia
HP:0007105Infantile encephalopathy
HP:0009553Abnormality of the hairline
HP:0011431Fetal fifth finger clinodactyly
HP:0011448Ankle clonus
HP:0031008Lingual dystonia
HP:0045075Sparse eyebrow
HP:0000358Posteriorly rotated ears
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)