SPONASTRIME dysplasia
ORPHA:93357DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)79
Очень частый (80–99%)6
HP:0000925Abnormality of the vertebral column
HP:0000926Platyspondyly
HP:0001999Abnormal facial shape
HP:0005280Depressed nasal bridge
HP:0008873Disproportionate short-limb short stature
HP:0011800Midface retrusion
Частый (30–79%)10
HP:0001156Brachydactyly
HP:0001511Intrauterine growth retardation
HP:0001518Small for gestational age
HP:0002857Genu valgum
HP:0003025Metaphyseal irregularity
HP:0004586Biconcave vertebral bodies
HP:0008905Rhizomelia
HP:0009826Limb undergrowth
HP:0031367Metaphyseal striations
HP:0100864Short femoral neck
Периодический (5–29%)63
HP:0001382Joint hypermobility
HP:0000047Hypospadias
HP:0000276Long face
HP:0000286Epicanthus
HP:0000303Mandibular prognathia
HP:0000445Wide nose
HP:0000463Anteverted nares
HP:0000518Cataract
HP:0000639Nystagmus
HP:0000691Microdontia
HP:0000696Delayed eruption of permanent teeth
HP:0000821Hypothyroidism
HP:0000826Precocious puberty
HP:0001169Broad palm
HP:0001263Global developmental delay
HP:0001377Limited elbow extension
HP:0001607Subglottic stenosis
HP:0001621Weak voice
HP:0001763Pes planus
HP:0001769Broad foot
HP:0001773Short foot
HP:0001875Decreased total neutrophil count
HP:0002007Frontal bossing
HP:0002308Chiari malformation
HP:0002650Scoliosis
HP:0002663Delayed epiphyseal ossification
HP:0002751Kyphoscoliosis
HP:0002761Generalized joint laxity
HP:0002812Coxa vara
HP:0002827Hip dislocation
HP:0002938Lumbar hyperlordosis
HP:0003015Flared metaphysis
HP:0003016Metaphyseal widening
HP:0003026Short long bone
HP:0003027Mesomelia
HP:0003182Shallow acetabular fossae
HP:0003196Short nose
HP:0003370Flat capital femoral epiphysis
HP:0003895Flattened humeral epiphyses
HP:0004279Short palm
HP:0004313Decreased circulating antibody level
HP:0004482Relative macrocephaly
HP:0004603Hyperconvex vertebral body endplates
HP:0004646Hypoplasia of the nasal bone
HP:0004944Dilatation of the cerebral artery
HP:0005446Obtuse angle of mandible
HP:0005743Avascular necrosis of the capital femoral epiphysis
HP:0006336Short dental roots
HP:0006532Recurrent pneumonia
HP:0006889Intellectual disability, borderline
HP:0007707Congenital aphakia
HP:0010234Ivory epiphyses of the phalanges of the hand
HP:0010585Small epiphyses
HP:0010740Osteopathia striata
HP:0010941Aplasia of the nasal bone
HP:0011220Prominent forehead
HP:0025492Microcoria
HP:0030043Hip subluxation
HP:0030833Neck pain
HP:0030834Shoulder pain
HP:0030839Knee pain
HP:0040221Hypoplasia of the dental root
HP:0100559Lower limb asymmetry
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 16 | 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)