Kaufman Oculocerebrofacial Syndrome (KOS) is a rare hereditary disorder which can show a spectrum of clinical impairments.
Synonym: blepharophimosis-ptosis-intellectual disability (BPID) syndrome
Chromosome: 12q24.11
Gene: UBE3B (ubiquitin-protein ligase E3B)
Inheritance: autosomal recessive
Key clinical findings:
(1) severe intellectual disability
(2) craniofacial features
(3) ocular findings
Craniofacial features:
(1) abnormal ears (low-set ears with overfolded helices and small lobes, cupped ears, preauricular tags, underdeveloped crus helix)
(2) narrow nasal bridge
(3) wide nasal base
(4) anteverted nares
(5) flat zygomata
(6) long, flat philtrum
(7) narrow mouth
(8) thin vermilion of the upper lip with absent Cupid's bow
(9) micrognathia in childhood (less prominent with age)
Ocular findings:
(1) high-arched eyebrows, laterally broad with flaring
(2) telecanthus
(3) blepharophimosis with epicanthal folds
(4) ptosis
(5) upslanted palpebral fissures
(6) microphthalmia
(7) coloboma
(8) optic nerve hypoplasia
(9) strabismus
(10) entropion
Other findings:
(1) microcephaly
(2) failure to thrive and/or feeding difficulties
(3) hypotonia
(4) short stature
(5) hearing loss
(6) congenital heart disease
(7) urogenital abnormalities
(8) skeletal abnormalities
(9) hypocholesterolemia
