are related to morning glory disc anomaly (MGDA), which
These are: C: Coloboma
of the eye, central nervous system anomalies; H: Heart defects; A: Atresia of the choanae R: Retardation of growth and/or development G: Genital and/or urinary defects (Hypogonadism) E: Ear anomalies and/or deafness.
of the eye is a cleft or failure of closure during development of the eyeball.
is a "hole" or defect in one part of the eye that occurs before birth.
are developmental abnormalities resulting from incomplete closure of the embryonic choroidal fissure.
The infant exhibited the following manifestations of NBCCS: broad nasal bridge, bifid ribs, palmar and plantar pits, hypertelorism, iris coloboma
, macrocephaly, and cleft lip and palate.
Participant Age Gender Reported diagnosis (years) 1 11 Female Large choridal colobomas
microphalmia, right eye blind, left eye 20/200; bilateral severe to profound hearing loss; severe cleft lip and palette, TEF; heart--PDA resolved; heart murmur; significant developmental delays; missing semicircular canals 2 11 Female Not reported 3 6 Female Retinal colobomas
bilateral; bilateral hearing aids; partial atresia 4 7 Female Not reported 5 11 Male Mild right ear hearing loss, severe left ear hearing loss; vision: farsightedness, left eye worse 6 8 Male Colobomas
in both eyes; g tube track from birth to age 2.
, choristomas, and ectopic lacrimal gland tissue), cardiovascular anomalies (e.
are the result of an incomplete closure of the foetal fissure during embryogenesis.
Some sensory impairments include colobomas
, semicircular anomalies (Murofushi et al.
There is generally a superior visual field defect and it is often associated with colobomas
of the iris, ciliary body and fundus.
Congenital nystagmus and colobomas
accounted for 3 cases each.