- Branchio-
oculo-facial
syndrome (BOFS) is a
disease that
arises from a
mutation in the TFAP2A gene. It is a rare
autosomal dominant disorder that starts...
- Behçet's
disease (BD) is a type of
inflammatory disorder which affects multiple parts of the body. The most
common symptoms include painful sores on the...
- CO;2-Z. PMID 9408975. Beleza-Meireles A, Clayton-Smith J,
Saraiva JM, et al
Oculo-auriculo-vertebral spectrum: a
review of the
literature and
genetic updateJournal...
-
toxoplasmosis Oculo-auriculo-vertebral
spectrum Oculo cerebral dysplasia Oculo cerebro acral syndrome Oculo cerebro osseous syndrome Oculo dento digital...
-
occurs by age seven. This
specific type has also been
designated as cerebro-
oculo-facio-skeletal (COFS)
syndrome or Pena-Shokeir
syndrome Type II. COFS syndrome...
- Hallermann–Streiff
syndrome is a
congenital disorder that
affects growth,
cranial development, hair-growth, and
dental development.
There are
fewer than...
- The
oculo-auricular phenomenon,
first described by
Kinnier Wilson in 1908, is the
phenomenon of an
extreme lateral gaze
inducing a
slight but perceptible...
-
Oculo-respiratory
syndrome (ORS) is a
usually transient condition characterized by
bilateral conjunctivitis,
facial edema, and
upper respiratory symptoms...
-
Wildervanck syndrome or cervico-
oculo-acoustic
syndrome comprises a
triad of:
Duane syndrome Klippel-Feil
anomaly (fused
cervical vertebrae) congenital...
-
Oculocutaneous albinism is a form of
albinism involving the eyes (
oculo-), the skin (-cutaneous), and the hair. Overall, an
estimated 1 in 20,000 people...
