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Disease characteristics

Excerpted from the GeneReview: Peters Plus Syndrome
Peters plus syndrome is characterized by anterior chamber eye anomalies, short limbs with broad distal extremities, variable developmental delay/intellectual disability, characteristic facial features, and cleft lip/palate. The most common anterior chamber defect is Peters' anomaly, consisting of central corneal clouding, thinning of the posterior cornea, and iridocorneal adhesions. Cataracts and glaucoma are common. Developmental delay is observed in about 80% of children; while some adults have normal cognitive function, intellectual disability can range from mild to severe. Cleft lip is present in 45% and cleft palate in 33%.

Associated genes

  • Also known as: RP11-367C11.1, B3GLCT, B3GTL, B3Glc-T, Gal-T, beta3Glc-T, B3GALTL
    Summary: beta 1,3-galactosyltransferase-like

Clinical features

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  • Umbilical hernia
  • Round face
  • Short stature
  • Sacral dimple
  • Short foot
  • Agenesis of corpus callosum
  • Prominent forehead
  • Abnormality of the ureter
  • Preauricular pit
  • Short metatarsal
  • Microcephaly
  • Limited elbow movement
  • Intellectual disability, progressive
  • Bilobate gallbladder
  • Birth length less than 3rd percentile
  • Craniosynostosis
  • Short lingual frenulum
  • Agenesis of maxillary lateral incisor
  • Square pelvis
  • Anteverted nares
  • Intrauterine growth retardation
  • Broad neck
  • Conical incisor
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Rhizomelia
  • Renal hypoplasia/aplasia
  • Low-set, posteriorly rotated ears
  • Ventricular septal defect
  • Postnatal growth retardation
  • Long philtrum
  • Proximal placement of thumb
  • Wide anterior fontanel
  • Micrognathia
  • Single transverse palmar crease
  • Seizure
  • Cataract
  • Glaucoma
  • Hydrocephalus
  • Nystagmus
  • Syndactyly
  • Cleft palate
  • Macrocephaly
  • Feeding difficulties in infancy
  • Multicystic kidney dysplasia
  • Abnormality of female internal genitalia
  • Hypoplasia of the uterus
  • Cryptorchidism
  • Hypospadias
  • Abnormality of female external genitalia
  • Hypoplastic labia majora
  • Clitoral hypoplasia
  • Ureteral duplication
  • Hydronephrosis
  • Wide mouth
  • Oral cleft
  • Cleft upper lip
  • Thin upper lip vermilion
  • Thin vermilion border
  • Hypertelorism
  • Preauricular skin tag
  • Stenosis of the external auditory canal
  • Conductive hearing impairment
  • Protruding ear
  • Webbed neck
  • Retinal coloboma
  • Microcornea
  • Visual impairment
  • Ptosis
  • Myopia
  • Blepharophimosis
  • Upslanted palpebral fissure
  • Iris coloboma
  • Optic atrophy
  • Peters anomaly
  • Pectus excavatum
  • Anterior hypopituitarism
  • Biliary tract abnormality
  • Brachydactyly syndrome
  • Joint laxity
  • Diastasis recti
  • Polyhydramnios
  • Defect in the atrial septum
  • Pulmonic stenosis
  • Abnormality of the cardiac septa
  • Pes cavus
  • Toe syndactyly
  • Short toe
  • Frontal bossing
  • Cerebral atrophy
  • Ventriculomegaly
  • Cerebral cortical atrophy
  • Facial hypertrichosis
  • Exaggerated cupid's bow
  • Scoliosis
  • Hemivertebrae
  • Micromelia
  • Short nose
  • Spina bifida occulta
  • Clinodactyly of the 5th finger
  • Short palm
  • Decreased body weight
  • Abnormality of the nipple
  • Abnormality of the pulmonary artery
  • Depressed nasal bridge
  • Wide intermamillary distance
  • Aplasia/Hypoplasia of the corpus callosum
  • Anterior chamber synechiae
  • Microtia, second degree
  • Hypoplasia of the vagina
  • Short metacarpal
  • Urogenital fistula
  • Displacement of the external urethral meatus
  • Intestinal fistula
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