Orphanet: Clinical Signs and Symptoms

Clinical Signs and Symptoms

ORPHA:616 Medulloblastoma

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.

Diagnostic criterion *

Ataxia HP:0001251

Headache HP:0002315

Nausea and vomiting HP:0002017

* Phenotypic abnormalities noted as « diagnostic criterion » are those included in established sets of criteria to establish the diagnosis of a particular disease having been published in a peer-reviewed journal.

Clinical signs and symptoms

Always present

Medulloblastoma HP:0002885

Frequent

Abnormal brain FDG positron emission tomography HP:0012658
Abnormal cranial nerve morphology HP:0001291
Ataxia HP:0001251
Cerebellar ataxia associated with quadrupedal gait HP:0009878
Cerebellar medulloblastoma HP:0007129
Delayed cranial suture closure HP:0000270
Dysmetria HP:0001310
Headache HP:0002315
Increased intracranial pressure HP:0002516
Intention tremor HP:0002080
Lethargy HP:0001254
Nausea and vomiting HP:0002017
Progressive cerebellar ataxia HP:0002073
Progressive macrocephaly HP:0004481

Occasional

Abnormality of bone marrow cell morphology HP:0005561
Adenomatous colonic polyposis HP:0005227
Back pain HP:0003418
Bilateral sensorineural hearing impairment HP:0008619
Cerebellar calcifications HP:0007352
Cerebellar cyst HP:0002350
Cerebellar hemorrhage HP:0011695
Cognitive impairment HP:0100543
Diplopia HP:0000651
Global developmental delay HP:0001263
Hydrocephalus HP:0000238
Irritability HP:0000737
Progressive visual loss HP:0000529
Spinal cord tumor HP:0010302
Total ophthalmoplegia HP:0007824
Vertigo HP:0002321

Rare

Elevated hepatic transaminase HP:0002910
Neoplasm of the lung HP:0100526
Neuroblastoma HP:0003006

Additional information

Further information

Specialised Social Services

Eurordis directory

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.