Clinical Signs and Symptoms
ORPHA:508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
The phenotypic description of this disease is based on an analysis of the biomedical literature and uses the terms of the Human Phenotype Ontology (HPO). Phenotypic abnormalities are presented by order of frequency of occurrence in the patient population, then by alphabetical order inside each frequency group.
- Abnormality of the skeletal system HP:0000924
- Global developmental delay HP:0001263
- Motor delay HP:0001270
- Severe platyspondyly HP:0004565
Very frequent
- Abnormal facial shape HP:0001999
- Abnormality of limb bone morphology HP:0002813
- Abnormality of the cervical spine HP:0003319
- Abnormality of the ilium HP:0002867
- Abnormality of the thorax HP:0000765
- Acetabular dysplasia HP:0008807
- Aplasia/hypoplasia involving bones of the extremities HP:0045060
- Brachydactyly HP:0001156
- Broad metacarpals HP:0001230
- Broad phalanges of the hand HP:0009768
- Decrease in T cell count HP:0005403
- Decreased antibody level in blood HP:0004313
- Decreased lymphocyte proliferation in response to mitogen HP:0031381
- Delayed ability to sit HP:0025336
- Disproportionate short stature HP:0003498
- Frontal bossing HP:0002007
- Hypereosinophilia HP:0032061
- Hypoplasia of the odontoid process HP:0003311
- Hyporeflexia HP:0001265
- Intellectual disability HP:0001249
- Kyphosis HP:0002808
- Lymphopenia HP:0001888
- Microcephaly HP:0000252
- Muscular hypotonia HP:0001252
- Narrow greater sciatic notch HP:0003375
- Short metacarpal HP:0010049
- Short nose HP:0003196
- Short phalanx of finger HP:0009803
- Specific learning disability HP:0001328
Frequent
- Absent speech HP:0001344
- Anteverted nares HP:0000463
- Broad ischia HP:0100865
- Bulbous nose HP:0000414
- Capillary hemangioma HP:0005306
- Cervical cord compression HP:0002341
- Cervical instability HP:0008462
- Cervical spinal canal stenosis HP:0008445
- Cloverleaf skull HP:0002676
- Coarse facial features HP:0000280
- Craniosynostosis HP:0001363
- Decreased circulating IgG level HP:0004315
- Decreased circulating total IgM HP:0002850
- Decreased proportion of CD4-positive T cells HP:0005407
- Decreased proportion of CD8-positive T cells HP:0005415
- Deeply set eye HP:0000490
- Delayed skeletal maturation HP:0002750
- Depressed nasal bridge HP:0005280
- Distal lower limb muscle weakness HP:0009053
- Drooling HP:0002307
- Elbow flexion contracture HP:0002987
- Enlarged metaphyses HP:0003051
- Focal myoclonic seizures HP:0011166
- Full cheeks HP:0000293
- Generalized hypotonia HP:0001290
- Generalized-onset seizure HP:0002197
- Gingival overgrowth HP:0000212
- Hepatomegaly HP:0002240
- Horseshoe kidney HP:0000085
- Hyperreflexia HP:0001347
- Hypertonia HP:0001276
- Hypoplasia of the corpus callosum HP:0002079
- Inability to walk HP:0002540
- Increased circulating total IgE level HP:0003212
- Increased intervertebral space HP:0030320
- Infantile axial hypotonia HP:0009062
- Laryngotracheal stenosis HP:0004894
- Limb undergrowth HP:0009826
- Limited elbow movement HP:0002996
- Long face HP:0000276
- Long nose HP:0003189
- Long philtrum HP:0000343
- Lumbar hyperlordosis HP:0002938
- Micrognathia HP:0000347
- Mitral valve prolapse HP:0001634
- Muscular hypotonia of the trunk HP:0008936
- Narrow mouth HP:0000160
- No social interaction HP:0008763
- Nystagmus HP:0000639
- Open mouth HP:0000194
- Opisthotonus HP:0002179
- Polyhydramnios HP:0001561
- Postaxial foot polydactyly HP:0001830
- Preaxial hand polydactyly HP:0001177
- Proptosis HP:0000520
- Recurrent pneumonia HP:0006532
- Sacral dimple HP:0000960
- Seizures HP:0001250
- Severe combined immunodeficiency HP:0004430
- Severe global developmental delay HP:0011344
- Stereotypy HP:0000733
- Thoracolumbar kyphosis HP:0005619
- Ventriculomegaly HP:0002119
Occasional
Additional information
Further information
Specialised Social Services
Warning
The information provided is based on published scientific articles.
The information provided is estimated for the entire population of patients in routine care. Some phenotypic abnormalities reported here may occur individually with a variable temporality or severity, while others, not listed, may still be encountered. Phenotypic annotations are not yet available for all rare diseases; the annotation process is ongoing.
The information contained in Orphanet is regularly updated. It is possible that discoveries have been made since the last update and have not yet been incorporated.
Professionals are encouraged to always consult the latest scientific publications before making a decision based on the information provided. The information contained in Orphanet is not intended to replace the services of a healthcare professional. Orphanet cannot be held responsible for the deleterious, truncated or erroneous use of any information found in the Orphanet database.