- eye" was
coined because of the
particular appearance of the
vertical colobomas in the eyes of some patients.
Patau syndrome (trisomy 13), a chromosomal...
-
presence of this
phenomenon is
dependent on the
degree of the
coloboma, with
larger colobomas more
likely to
manifest this
particular phenomenon. This anomaly...
-
Joubert syndrome is a rare
autosomal recessive genetic disorder that
affects the cerebellum, an area of the
brain that
controls balance and coordination...
-
first described in 1983. The
acronym CHIME is
based on its main symptoms:
colobomas,
heart defects,
ichthyosiform dermatosis,
intellectual disability, and...
- blindness,
increased intraocular pressure, ametropia, microphthalmia, and
colobomas.
Merle dogs born from
parents who are also both
merles may additionally...
-
syndrome was
coined because of the
particular appearance of the
vertical colobomas in the eyes of some patients, but over half of the CES
patients in the...
-
genetic disorder marked by
underdevelopment (hypoplasia) of the
kidney and
colobomas of the
optic nerve.
Ocular disc
dysplasia is the most
notable ocular defect...
- "CHARGE" came into use for
newborn children with the
congenital features of
coloboma of the eye,
heart defects,
atresia of the
nasal choanae,
restricted growth...
- the
merle gene.
Homozygous merles can be deaf or blind, or
express iris
colobomas,
retinal detachment, cataracts,
persistent pupillary membrane, a displacement...
-
genetics or
developmental conditions.
Examples of
these conditions include;
Coloboma,
Noonan syndrome,
Hypohidrotic ectodermal dysplasia, EEC (ectrodactyly-...
