Clinical Signs and Symptoms
ORPHA:580 Mucopolysaccharidosis type 2
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.
- Abnormal heart morphology HP:0001627
- Abnormality of the cardiovascular system HP:0001626
- Coarse facial features HP:0000280
- Limitation of joint mobility HP:0001376
- Macrocephaly HP:0000256
- Short stature HP:0004322
Very frequent
- Abnormal heart valve morphology HP:0001654
- Behavioral abnormality HP:0000708
- Chronic diarrhea HP:0002028
- Cognitive impairment HP:0100543
- Conductive hearing impairment HP:0000405
- Contractures of the large joints HP:0005781
- Decreased nerve conduction velocity HP:0000762
- Developmental regression HP:0002376
- Dysostosis multiplex HP:0000943
- Enlarged tonsils HP:0030812
- Flexion contracture of digit HP:0030044
- Full cheeks HP:0000293
- Gingival overgrowth HP:0000212
- Growth delay HP:0001510
- Hepatomegaly HP:0002240
- Hoarse voice HP:0001609
- Inguinal hernia HP:0000023
- Irregularity of vertebral bodies HP:0004582
- Macroglossia HP:0000158
- Mental deterioration HP:0001268
- Peripheral visual field loss HP:0007994
- Progressive neurologic deterioration HP:0002344
- Recurrent ear infections HP:0410018
- Recurrent upper respiratory tract infections HP:0002788
- Retinal degeneration HP:0000546
- Retinopathy HP:0000488
- Sensorineural hearing impairment HP:0000407
- Short attention span HP:0000736
- Sleep apnea HP:0010535
- Sleep disturbance HP:0002360
- Sleep-wake cycle disturbance HP:0006979
- Splenomegaly HP:0001744
- Thick vermilion border HP:0012471
- Umbilical hernia HP:0001537
Frequent
- Abnormal aortic morphology HP:0001679
- Abnormal epiphyseal ossification HP:0010656
- Abnormal foveal morphology HP:0000493
- Abnormal full-field electroretinogram HP:0030466
- Abnormal mitral valve morphology HP:0001633
- Abnormal nasal mucus secretion HP:0031416
- Abnormal pulmonary valve morphology HP:0001641
- Abnormal tricuspid valve morphology HP:0001702
- Abnormality of retinal pigmentation HP:0007703
- Cardiomyopathy HP:0001638
- Communicating hydrocephalus HP:0001334
- Constrictive median neuropathy HP:0012185
- Corneal opacity HP:0007957
- Global developmental delay HP:0001263
- Hip dysplasia HP:0001385
- Hip osteoarthritis HP:0008843
- Hyperactivity HP:0000752
- Muscle stiffness HP:0003552
- Nyctalopia HP:0000662
- Optic atrophy HP:0000648
- Otosclerosis HP:0000362
- Papilledema HP:0001085
- Prominent supraorbital ridges HP:0000336
- Spinal cord compression HP:0002176
- Temporomandibular joint ankylosis HP:0012478
- Upper airway obstruction HP:0002781
- Wide nasal bridge HP:0000431
- Wide nose HP:0000445
Occasional
- Abnormal temper tantrums HP:0025160
- Aggressive behavior HP:0000718
- Arrhythmia HP:0011675
- Hypertension HP:0000822
- Impulsivity HP:0100710
- Large central visual field defect HP:0001129
- Oppositional defiant disorder HP:0010865
- Peripheral arterial stenosis HP:0004950
- Seizure HP:0001250
- Stereotypy HP:0000733
Rare
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.