-
although the
spinal changes seen in
hypochondrogenesis tend to be
somewhat milder.
Symptoms of
hypochondrogenesis include: edema, limb undergrowth, spondyloepiphyseal...
-
milder than, the
related skeletal disorders achondrogenesis type 2 and
hypochondrogenesis.
Spondyloepiphyseal dysplasia congenita is a
subtype of collagenopathy...
- Achondrogenesis, type 2 is an
uncommon skeletal dysplasia that is
autosomal dominant and
occurs at a
frequency of
approximately 0.2 per 100,000 births...
- imperfecta (types I–IV) Ehlers–Danlos syndrome (types 1, 2, & 7) COL2:
Hypochondrogenesis Achondrogenesis (type 2)
Stickler syndrome Marshall syndrome Spondyloepiphyseal...
-
caused by
mutations in the COL2A1 gene. Achondrogenesis, type 2 and
hypochondrogenesis (a
similar skeletal disorder)
together affect 1 in 40,000 to 60,000...
-
dysplasia Craniodiaphyseal dysplasia Craniometaphyseal dysplasia Hypochondrogenesis Hypochondroplasia Kenny-Caffey
syndrome Kniest dysplasia Lenz–Majewski...
-
cornea plana 2
episodic ataxia hereditary hemorrhagic telangiectasia hypochondrogenesis ichthyosis bullosa of
Siemens Kniest dysplasia Kabuki syndrome maturity...
-
fingers and toes.
Hypochondrogenesis:
Several different types of
mutations in the COL2A1 gene are
responsible for
hypochondrogenesis.
These mutations may...
-
types of collagenopathy,
types II and XI.
achondrogenesis type 2
hypochondrogenesis Kniest dysplasia otospondylomegaepiphyseal dysplasia spondyloepimetaphyseal...
-
Hyperphenylalaninemia 12q
Hypoalphalipoproteinemia (Tangier disease) ABCA1
Hypochondrogenesis COL2A1
Hypochondroplasia FGFR3 (4p16.3) Immunodeficiency–centromeric...
