Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
ORPHA:508533DiseaseAutosomal recessiveAntenatal, Neonatal
Ассоциированные гены1
Фенотипы (HPO)95
Очень частый (80–99%)4
HP:0000924Abnormality of the skeletal system
HP:0001263Global developmental delay
HP:0001270Motor delay
HP:0004565Severe platyspondyly
Частый (30–79%)29
HP:0000252Microcephaly
HP:0000765Abnormal thorax morphology
HP:0001156Brachydactyly
HP:0001230Broad metacarpals
HP:0001249Intellectual disability
HP:0001252Hypotonia
HP:0001265Hyporeflexia
HP:0001328Specific learning disability
HP:0001888Lymphopenia
HP:0001999Abnormal facial shape
HP:0002007Frontal bossing
HP:0002808Kyphosis
HP:0002813Abnormality of limb bone morphology
HP:0002867Abnormality of the ilium
HP:0003196Short nose
HP:0003311Hypoplasia of the odontoid process
HP:0003319Abnormality of the cervical spine
HP:0003375Narrow greater sciatic notch
HP:0003498Disproportionate short stature
HP:0004313Decreased circulating antibody level
HP:0005403Decreased total T cell count
HP:0008807Acetabular dysplasia
HP:0009768Broad phalanges of the hand
HP:0009803Short phalanx of finger
HP:0010049Short metacarpal
HP:0025336Delayed ability to sit
HP:0031381Decreased lymphocyte proliferation in response to mitogen
HP:0032061Hypereosinophilia
HP:0045060Aplasia/hypoplasia involving bones of the extremities
Периодический (5–29%)62
HP:0000085Horseshoe kidney
HP:0000160Narrow mouth
HP:0000194Open mouth
HP:0000212Gingival overgrowth
HP:0000276Long face
HP:0000280Coarse facial features
HP:0000293Full cheeks
HP:0000343Long philtrum
HP:0000347Micrognathia
HP:0000414Bulbous nose
HP:0000463Anteverted nares
HP:0000490Deeply set eye
HP:0000520Proptosis
HP:0000639Nystagmus
HP:0000733Abnormal repetitive mannerisms
HP:0000960Sacral dimple
HP:0001177Preaxial hand polydactyly
HP:0001250Seizure
HP:0001276Hypertonia
HP:0001290Generalized hypotonia
HP:0001344Absent speech
HP:0001347Hyperreflexia
HP:0001363Craniosynostosis
HP:0001561Polyhydramnios
HP:0001634Mitral valve prolapse
HP:0001830Postaxial foot polydactyly
HP:0002079Hypoplasia of the corpus callosum
HP:0002119Ventriculomegaly
HP:0002179Opisthotonus
HP:0002197Generalized-onset seizure
HP:0002240Hepatomegaly
HP:0002307Drooling
HP:0002341Cervical cord compression
HP:0002540Inability to walk
HP:0002676Cloverleaf skull
HP:0002750Delayed skeletal maturation
HP:0002850Decreased circulating total IgM
HP:0002938Lumbar hyperlordosis
HP:0002987Elbow flexion contracture
HP:0002996Limited elbow movement
HP:0003051Enlarged metaphyses
HP:0003189Long nose
HP:0003212Increased circulating IgE level
HP:0004315Decreased circulating IgG level
HP:0004430Severe combined immunodeficiency
HP:0004894Laryngotracheal stenosis
HP:0005280Depressed nasal bridge
HP:0005306Capillary hemangioma
HP:0005415Decreased proportion of CD8-positive T cells
HP:0005619Thoracolumbar kyphosis
HP:0006532Recurrent pneumonia
HP:0008445Cervical spinal canal stenosis
HP:0008462Cervical instability
HP:0008763No social interaction
HP:0008936Axial hypotonia
HP:0009053Distal lower limb muscle weakness
HP:0009826Limb undergrowth
HP:0011166Focal myoclonic seizure
HP:0011344Severe global developmental delay
HP:0030320Increased intervertebral space
HP:0032218Decreased proportion of CD4-positive T cells
HP:0100865Broad ischia
Эпидемиология2
| Тип оценки | Класс распространённости | Среднее (на 100к) | Регион | Квалификация |
|---|---|---|---|---|
| Cases/families | — | 12 | 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)