Dyggve-Melchior-Clausen disease
ORPHA:239DiseaseAutosomal recessiveInfancy
Ассоциированные гены1
Фенотипы (HPO)59
Очень частый (80–99%)4
HP:0001249Intellectual disability
HP:0001508Failure to thrive
HP:0002651Spondyloepimetaphyseal dysplasia
HP:0003521Disproportionate short-trunk short stature
Частый (30–79%)30
HP:0000252Microcephaly
HP:0000280Coarse facial features
HP:0000470Short neck
HP:0000768Pectus carinatum
HP:0000885Broad ribs
HP:0000925Abnormality of the vertebral column
HP:0000926Platyspondyly
HP:0000946Hypoplastic ilia
HP:0001270Motor delay
HP:0002652Skeletal dysplasia
HP:0002656Epiphyseal dysplasia
HP:0003026Short long bone
HP:0003090Hypoplasia of the capital femoral epiphysis
HP:0003183Wide pubic symphysis
HP:0003272Abnormality of the hip bone
HP:0003274Hypoplastic acetabulae
HP:0003368Abnormality of the femoral head
HP:0003510Severe short stature
HP:0003690Limb muscle weakness
HP:0004568Beaking of vertebral bodies
HP:0005106Abnormality of the vertebral endplates
HP:0006429Broad femoral neck
HP:0008786Iliac crest serration
HP:0008905Rhizomelia
HP:0010306Short thorax
HP:0010864Intellectual disability, severe
HP:0031233Horizontal inferior border of scapula
HP:0040163Abnormal pelvis bone morphology
HP:0100255Metaphyseal dysplasia
HP:0001288Gait disturbance
Периодический (5–29%)22
HP:0000750Delayed speech and language development
HP:0000752Hyperactivity
HP:0001256Intellectual disability, mild
HP:0001285Spastic tetraparesis
HP:0001347Hyperreflexia
HP:0001377Limited elbow extension
HP:0001538Protuberant abdomen
HP:0002359Frequent falls
HP:0002465Poor speech
HP:0002540Inability to walk
HP:0002747Respiratory insufficiency due to muscle weakness
HP:0002788Recurrent upper respiratory tract infections
HP:0002812Coxa vara
HP:0002857Genu valgum
HP:0003028Abnormality of the ankles
HP:0003066Limited knee extension
HP:0003311Hypoplasia of the odontoid process
HP:0003467Atlantoaxial instability
HP:0003698Difficulty standing
HP:0004242Broad carpal bones
HP:0006633Glenoid fossa hypoplasia
HP:0031987Diminished ability to concentrate
Исключён (0%)3
HP:0000365Hearing impairment
HP:0007957Corneal opacity
HP:0012379Abnormal enzyme/coenzyme activity
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 100 | 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)