Clinical Signs and Symptoms
ORPHA:217085 Mucopolysaccharidosis type 2, severe form
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 enzyme/coenzyme activity HP:0012379
- Abnormality of cardiovascular system morphology HP:0030680
- Abnormality of the nervous system HP:0000707
- Camptodactyly of finger HP:0100490
- Coarse facial features HP:0000280
- Dermatan sulfate excretion in urine HP:0008301
- Flexion contracture HP:0001371
- Growth delay HP:0001510
- Heparan sulfate excretion in urine HP:0002159
- Limitation of joint mobility HP:0001376
- Macrocephaly HP:0000256
- Muscle weakness HP:0001324
- Short stature HP:0004322
Very frequent
- Abnormal heart valve morphology HP:0001654
- Abnormality of dental morphology HP:0006482
- Behavioral abnormality HP:0000708
- Cognitive impairment HP:0100543
- Enlarged tonsils HP:0030812
- Full cheeks HP:0000293
- Gingival overgrowth HP:0000212
- Global developmental delay HP:0001263
- Heart murmur HP:0030148
- Hoarse voice HP:0001609
- Increased size of nasopharyngeal adenoids HP:0040261
- Inguinal hernia HP:0000023
- Macroglossia HP:0000158
- Mental deterioration HP:0001268
- Prominent supraorbital ridges HP:0000336
- Recurrent ear infections HP:0410018
- Recurrent upper respiratory tract infections HP:0002788
- Sleep apnea HP:0010535
- Sleep disturbance HP:0002360
- Umbilical hernia HP:0001537
- Visual impairment HP:0000505
- Wide nasal bridge HP:0000431
- Wide nose HP:0000445
Frequent
- Abnormal aortic morphology HP:0001679
- Abnormal foveal morphology HP:0000493
- Abnormal mitral valve morphology HP:0001633
- Abnormal pulmonary valve morphology HP:0001641
- Abnormal tricuspid valve morphology HP:0001702
- Abnormal uvea morphology HP:0000553
- Abnormal vertebral morphology HP:0003468
- Abnormality of retinal pigmentation HP:0007703
- Arrhythmia HP:0011675
- Arthritis HP:0001369
- Cardiomyopathy HP:0001638
- Chronic diarrhea HP:0002028
- Conductive hearing impairment HP:0000405
- Constrictive median neuropathy HP:0012185
- Corneal opacity HP:0007957
- Decreased light- and dark-adapted electroretinogram amplitude HP:0000654
- Developmental regression HP:0002376
- Diaphyseal thickening HP:0005019
- Hepatosplenomegaly HP:0001433
- Hip dysplasia HP:0001385
- Hypertension HP:0000822
- Impaired mastication HP:0005216
- Localized skin lesion HP:0011355
- Nyctalopia HP:0000662
- Optic atrophy HP:0000648
- Otosclerosis HP:0000362
- Papilledema HP:0001085
- Peripheral arterial stenosis HP:0004950
- Peripheral visual field loss HP:0007994
- Restrictive ventilatory defect HP:0002091
- Retinopathy HP:0000488
- Scleral thickening HP:0030823
- Seizures HP:0001250
- Sensorineural hearing impairment HP:0000407
- Spinal canal stenosis HP:0003416
- Spinal cord compression HP:0002176
- Splenomegaly HP:0001744
- Temporomandibular joint ankylosis HP:0012478
- Thick vermilion border HP:0012471
- Thickened ribs HP:0000900
- Upper airway obstruction HP:0002781
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.