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Copyright V. Ventruto / A. Di Luccio
Genus database
17050
mucopolysaccharidosis II
Eponyms:
Inheritance:
Hunter syndrome
IDS
iduronate sulfatase deficiency
MPS II
MPS2
SIDS
sulfo-iduronate sulfatase deficiency
X-linked recessive
Semeiological Artrho--facio-gastrointestinal-metabolic-skeletal disorder. Two main groups: severe form and milder form.
Coarse face, hydrocephalus, hepatosplenomegaly, dysostosis multiplex, joint stiffness, hernia, deafness,
Synthesis:
mental deterioration, other clinical data. Possibility of abnormalities in carriers: enzyme assay on hair bulbs
and serum (variable).
Group
Sub group
Signs:
AUDITORY DISORDERS
deafness
deafness sensorineural, including unspecified
type
deafness, in syndromic association
otitis
CARDIOVASCULAR DISORDERS
cardiac congenital defects
coronary disease, myocardial infarction,
angina
heart failure
DERMATOLOGICAL DISORDERS
cutis, changes in appearance and/or features
nuchal lucency, increased foetal nuchal
translucency
cutis, nodules
cutis, nodules; skin polyps; warty, verrucous
lesions
lanugo, modified appearance
hypertrichosis, hirsutism
GASTROINTESTINAL DISORDERS
intestinal dysfunctions
constipation
malabsorption, including diarrhea
liver dysfunctions, liver anomalies
hepatomegaly, liver enlarged
HEMOPOIETIC-LYMPHORETICULAR SYSTEM
DISORDERS
spleen, anomalies
splenomegaly, hepatosplenomegaly
JOINT DISORDERS
joint, mobility reduction
contractures, joint stifness, not including:
arthrogriposis, camptodactyly
LABORATORY DATA
biochemical markers
metabolic defect
chromosomal assignment
chromosome X localization
chromosome Xq localization
chromosome Xq28 localization
fibroblasts, changes
metachromasia
foetal-amniotic biochemical data
glycosaminoglycans (foetal)
iduronate 2-sulphatase , low activity (foetal)
mucopolysaccharidosis II
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Copyright V. Ventruto / A. Di Luccio
Genus database
gene, structural-functional anomalies
gene analysis-DNA analysis
IDS (MPS2) (SIDS) iduronate 2-sulfatase,
Hunter syndrome, gene chr.Xq28
plasma nonprotein-organic constituents,
anomalies
mucopolysaccharidoses
tissue, biochemical changes
iduronate sulphatase , low activity
lysosomal disorders
urine, constituent changes
mucopolysaccharidosuria, oligosacchariduria
MUSCULAR DISEASES
muscular defects, distrectual
hernia, inguinal
hernia, umbilical, navel
systemic muscular defects
muscular hypertonia, contractures
NEUROLOGICAL DISORDERS
behaviour, changes
aggressivity, irritability, hyperactivity
brain anomalies
hydrocephalus not including: aquaeductal
stenosis and Dandy Walker
macrocephaly, megalencephaly,
macroencephaly, enlarged head
mental retardation
mental retardation
performance changes, not including mental
retardation
speech dyspraxia, including speech delayed
OCULAR DISORDERS
choroidoretinal defects
retinal pigmentation changes, retinal flecks
retinitis pigmentosa
OROCRANIOFACIAL ANOMALIES
facies, modified appearance
dysmorphic face
facies, coarse
forehead-orbital region, changes
eyebrows, bushs
supraorbital ridges, prominent
lips, modified appearance
lower lip, thick
neck, modified appearance
neck, short
nuchal cyst, cystic nuchal hygromas
nose, modified appearance
nose, large, broad, bulbous
oral mucous membranes,changes
gingival hyperplasia, gum hypertrophy, broad
alveolar ridge
teeth, modified structures
teeth, cysts
teeth, late eruption
tongue, changes
macroglossia
OTHERS
inheritance
inheritance, X-linked recessive
supergroups
arthro-facio-neuro-oculo--oto-skeletal
disorders
mucopolysaccharidosis II
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Copyright V. Ventruto / A. Di Luccio
Genus database
arthro-facio-respiratory-skeletal disorders
arthro-neuro-oculo-oto-skeleal disorders
arthro-neuro-skeletal disorders
arthro-oculo-oto disorders
cardio-cutaneous-facio disorders
cardio-cutaneous-oculo disorders
cardio-cutaneous-oto-skeletal disorders
cardio-facio-gastrointestinal-skeletal disorders
cardio-facio-hemato-intestinal disorders
cardio-facio-neuro-skeletal disorders
cardio-facio-oculo-skeleto-urological disorders
cardio-facio-oto-skeletal disorders
cutaneous-facio-neuro-oculo disorders
cutaneous-oculo-oto-skeletal disorders
facio-gastrointestinal-neuro-oculo-skeletal
disorders
facio-neuro-oculo-oto disorders
facio-neuro-oculo-skeletal disorders
facio-oto-respiratory disorders
gastrointestinal-oculo-skeleal disorders
hematologic-neuro-oto-skeletal
PRENATAL-NEONATAL MODIFIED DATA
foetal changes
foetal changes, recognized by laboratory data
foetal changes, recognized by ultrasound
techniques
foetal nuchal translucency, foetal cystic
hygroma
prenatal diagnosis
foetal biopsy
foetal blood analysis
prenatal diagnosis, echographic
prenatal diagnosis, metabolic
prenatal diagnosis, molecular
RESPIRATORY DISORDERS
larynx, changes
cry, hoarse voice, hoarseness husky
respiratory distress
respiratory infections, recurrent, including
pneumonitis
SKELETAL DISORDERS
clavicle, defects
clavicle, broad, thick
diaphyseal changes
diaphyseal swelling, broadening
epiphyseal changes
epiphyseal anomalies not including: stippling
frayed, cone shaped
hand-foot, changes
hand, clawlike
pes cavus, clawfoot
limb anomalies, limb defects
osteochondrodysplasias and other severe
skeletal defects
metacarpus-metatarsus changes
brachymetacarpia, brachymetatarsia
metacarpus metatarsus, unspecified
anomalies
metacarpus, tapering, pointing; metatarsus,
tapering, pointing
metaphyseal changes
metaphyseal changes not including: dum belllike erlenmeyer-like shaped
ossification, changes
mucopolysaccharidosis II
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Genus database
calvarium sclerotic, thickned
skull base, sclerosis
sella turcica, changes
sella turcica, J shaped
sella turcica, large, elongated
skull shape, changes
macrocrania
spine, changes
kyphosis, including lumbar gibbus
scoliosis, kyphoscoliosis
stature, growth, modified habitus
growth delayed, failure to thrive, growth
retardation
stature, short, including micromelia, including
short limbs
vertebral changes
vertebra, pointed, wedging, cuneiform
Super group:
arthro-facio-neuro-oculo-oto-skeletal disorders
arthro-facio-respiratory-skeletal disorders
arthro-neuro-skeletal disorders
arthro-oculo-oto disorders
cardio-cutaneous-facio disorders
cardio-cutaneous-ocular disorders
cardio-cutaneous-oto-skeletal disorders
cardio-facio-gastrointestinal-hemato disorders
cardio-facio-gastrointestinal-skeletal disorders
cardio-facio-neuro-oculo-oto disorders
cardio-facio-neuro-skeletal disorders
cardio-facio-oculo-skeleto-urological disorders
cardio-facio-oto-skeletal disorders
cutaneous-facio-neuro-ocular disorders
cutaneous-oculo-oto-skeletal disorders
dysmorphic face-mental retardation: deafness
dysmorphic face-mental retardation: metabolic disorders
dysmorphic face-mental retardation: skeletal disorders
facio-gastrointestinal-neuro-oculo-skeletal disorders
facio-neuro-oculo-skeletal disorders
facio-oto-respiratory disorders
gastrointestinal-oculo-skeletal disorders
hemato-neuro-oto-skeletal disorders
Super aggreg. DEAFNESS
deafness, in syndromic association
Aggregations:
FOETAL CHANGES
foetal changes, recognized by laboratory data
foetal changes, recognized by ultrasound techniques
nuchal translucency, cystic hygroma
METABOLIC DISORDERS
lysosomal disorders
OTHER
craniofacial dysmorphism due to cranial changes, including microcephaly
dysmorphic face
mucopolysaccharidoses
phenotypical changes in carrier for X-linked disorders
Differential
diagnosis:
mucopolysaccharidosis II
5950
10390
10400
27620
16990
17000
17001
28738
Coffin-Siris syndrome
gangliosidosis GM1-I
gangliosidosis GM1-II
Hillig syndrome
mucolipidosis II
mucolipidosis III
mucolipidosis III, variant form
mucopolysaccharidosis I
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Copyright V. Ventruto / A. Di Luccio
Genus database
Aggregation(s) [in differential diagnosis]:
- mucopolysaccharidoses
Bibliography
mucopolysaccharidosis II
OMIM ID: 309900
Baraitser-Winter: Congenital Malformation Syndromes Mosby&Wolfe Ed. 1996, pag.169
Wiedemann H.R.-Kunze J.: Clinical Syndromes , Mosby-Wolfe Ed. 1997 pag. 132-133
Smith's Recognizable Patterns of Human Malformation. 6th Edition pag. 532-535
Spranger JW, Brill PW, Poznanski A: Bone Dysplasias 2nd Ed. 272-276
Annuario Orphanet-Italia delle Malattie Rare 2005, pag. 584
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24072408,2007
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.24372438,2007
Emery&Rimoin's: Principles and Practice of Medical Genetics. Church. Livingstone. p.747766,2007
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