- and XI
collagenopathies result in
similar clinical features.[citation needed]
Genetic changes are
related to the
following types of
collagenopathy, types...
- hypochondrogenesis.
Spondyloepiphyseal dysplasia congenita is a
subtype of
collagenopathy,
types II and XI.
People with
spondyloepiphyseal dysplasia are short-statured...
- molecule,
producing tropocollagen.
Defects in this step
produce various collagenopathies called Ehlers–Danlos syndrome. This step is
absent when synthesizing...
-
connective tissue,
specifically collagen.
Stickler syndrome is a
subtype of
collagenopathy,
types II and XI.
Stickler syndrome is
characterized by distinctive...
-
Spondyloepimetaphyseal dysplasia, (Strudwick type)
Kniest dysplasia (Type II
collagenopathy) COL3: Ehlers–Danlos syndrome (types 3 & 4) Sack–Barabas
syndrome COL4:...
- in life.
Early diagnosis can be challenging. Furthermore, type II
collagenopathies have
significant phenotypic overlap with
conditions such as MPS. Guidelines...
-
Spondyloepimetaphyseal dysplasia,
Strudwick type is a
subtype of type II
collagenopathies. The
signs and
symptoms of this
condition at
birth are very similar...
-
pattern of
inheritance makes OSMED unique among the type II and type XI
collagenopathies. The
distinctive characteristics of
OSMED include severe bone and joint...
-
syndrome X RPS6KA3 1:40,000-50,000
Cohen syndrome COH1 1:7,800,000
Collagenopathy,
types II and XI COL11A1, COL11A2, COL2A1
Congenital insensitivity to...
-
formation in the
spine and pelvis.
Hypochondrogenesis is a
subtype of
collagenopathy,
types II and XI, and is
similar to
another skeletal disorder, achondrogenesis...
