Peters plus syndrome
An autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
MONDO:0002254
syndromic disease
is_a
MONDO:0005328
eye disorder
is_a
MONDO:0015159
multiple congenital anomalies/dysmorphic syndrome-intellectual disability
is_a
MONDO:0015327
developmental anomaly of metabolic origin
is_a
MONDO:0017747
disorder of fucoglycosan synthesis
is_a
MONDO:0100547
cardiogenetic disease
is_a
Krause-Kivlin syndrome
exact
Krause-van Schooneveld-Kivlin syndrome
exact
Peters anomaly with short limb dwarfism
exact
Peters-plus syndrome
exact