Krause-Kivlin syndrome and Peters Plus syndrome are the same condition.
Chromosome location: 13q12.3
Gene: B3GALTL
Inheritance: autosomal recessive
Clinical features:
(1) anomaly of the anterior chamber including Peters’ anomaly (see below)
(2) short stature and short limbs
(3) broad distal extremities and bradydactyly
(4) characteristic facial features (exaggerated Cupid’s bow of the upper lip, long philtrum, ear anomalies, short palpebral fissures, broad neck)
(5) cleft palate and/or lip
(6) variable developmental delay or intellectual disability
(7) variable anomalies in heart, kidneys, brain
Peters’ anomaly:
(1) central corneal clouding
(2) thinning of the posterior cornea
(3) iridocorneal adhesions
Complications:
(1) glaucoma
(2) cataracts
(3) blindness
(4) miscarriage or stillbirth
