Schwartz-Jampel syndrome
ORPHA:800DiseaseAutosomal recessiveInfancy, Neonatal
Ассоциированные гены1
Фенотипы (HPO)112
Очень частый (80–99%)26
HP:0000160Narrow mouth
HP:0000205Pursed lips
HP:0000211Trismus
HP:0000232Everted lower lip vermilion
HP:0000293Full cheeks
HP:0000505Visual impairment
HP:0000944Abnormal metaphysis morphology
HP:0001249Intellectual disability
HP:0001276Hypertonia
HP:0001288Gait disturbance
HP:0001385Hip dysplasia
HP:0001387Joint stiffness
HP:0001763Pes planus
HP:0002486Myotonia
HP:0002652Skeletal dysplasia
HP:0002804Arthrogryposis multiplex congenita
HP:0002857Genu valgum
HP:0002983Micromelia
HP:0003236Elevated circulating creatine kinase concentration
HP:0003457EMG abnormality
HP:0004322Short stature
HP:0005930Abnormality of epiphysis morphology
HP:0006487Bowing of the long bones
HP:0010508Metatarsus valgus
HP:0012544Elevated circulating aldolase concentration
HP:0000358Posteriorly rotated ears
Частый (30–79%)33
HP:0000218High palate
HP:0000298Mask-like facies
HP:0000347Micrognathia
HP:0000396Overfolded helix
HP:0000426Prominent nasal bridge
HP:0000470Short neck
HP:0000486Strabismus
HP:0000508Ptosis
HP:0000518Cataract
HP:0000534Abnormal eyebrow morphology
HP:0000545Myopia
HP:0000581Blepharophimosis
HP:0000600Abnormality of the pharynx
HP:0000768Pectus carinatum
HP:0000926Platyspondyly
HP:0000939Osteoporosis
HP:0001239Wrist flexion contracture
HP:0001265Hyporeflexia
HP:0001620Abnormally high-pitched voice
HP:0001621Weak voice
HP:0002650Scoliosis
HP:0002673Coxa valga
HP:0002808Kyphosis
HP:0002812Coxa vara
HP:0003044Shoulder flexion contracture
HP:0003198Myopathy
HP:0003273Hip contracture
HP:0003306Spinal rigidity
HP:0003307Hyperlordosis
HP:0003712Skeletal muscle hypertrophy
HP:0005830Flexion contracture of toe
HP:0012368Flat face
HP:0100569Abnormally ossified vertebrae
Периодический (5–29%)53
HP:0000023Inguinal hernia
HP:0000069Abnormality of the ureter
HP:0000079Abnormality of the urinary system
HP:0000175Cleft palate
HP:0000252Microcephaly
HP:0000294Low anterior hairline
HP:0000316Hypertelorism
HP:0000343Long philtrum
HP:0000482Microcornea
HP:0000643Blepharospasm
HP:0000689Dental malocclusion
HP:0000737Irritability
HP:0000739Anxiety
HP:0000767Pectus excavatum
HP:0000772Abnormal rib morphology
HP:0000787Nephrolithiasis
HP:0000912Sprengel anomaly
HP:0001083Ectopia lentis
HP:0001324Muscle weakness
HP:0001522Death in infancy
HP:0001537Umbilical hernia
HP:0001557Prenatal movement abnormality
HP:0001561Polyhydramnios
HP:0001601Laryngomalacia
HP:0001618Dysphonia
HP:0001762Talipes equinovarus
HP:0002047Malignant hyperthermia
HP:0002092Pulmonary arterial hypertension
HP:0002093Respiratory insufficiency
HP:0002104Apnea
HP:0002167Abnormality of speech or vocalization
HP:0002230Generalized hirsutism
HP:0002645Wormian bones
HP:0002750Delayed skeletal maturation
HP:0003042Elbow dislocation
HP:0003179Protrusio acetabuli
HP:0003202Skeletal muscle atrophy
HP:0003326Myalgia
HP:0004325Decreased body weight
HP:0004326Cachexia
HP:0007018Attention deficit hyperactivity disorder
HP:0007740Long eyelashes in irregular rows
HP:0008056Aplasia/Hypoplasia affecting the eye
HP:0008734Decreased testicular size
HP:0008872Feeding difficulties in infancy
HP:0009743Distichiasis
HP:0010978Abnormality of immune system physiology
HP:0011001Increased bone mineral density
HP:0011069Supernumerary tooth
HP:0011675Arrhythmia
HP:0100612Odontogenic neoplasm
HP:0100795Abnormally straight spine
HP:0100813Testicular torsion
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 129 | 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)