Inheritance: autosomal recessive
Some patients may have mutations in PAX6 on chromosome 11p13.
Clinical features of Peters'-Plus syndrome:
(1) Peters' anomaly of the cornea (described in 19.57.06)
(2) mental retardation common
(3) dwarfism with short limbs
(4) prominent forehead and/or hypertelorism
(5) long philtrum, cupid-bow shaped upper lip and/or thin vermilion border
(6) small ears that may be malformed with or without preauricular pits
(7) narrow palpebral fissures
(8) decreased range of motion in elbows
(9) hypermobility in joints other than the elbow
(10) fifth finger clinodactyly
(11) broad, short hands
(12) variable cardiac anomalies
(13) variable hydronephrosis
(14) variable renal duplication
(15) variable genital defects (cryptorchidism in males, defects of external genitalia in females)
(16) variable brachycephaly, microcephaly or macrocephaly
(17) variable deafness
(18) variable CNS defects (agenesis of corpus callosum, seizures, other)
