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Disease characteristics

Excerpted from the GeneReview: Lowe Syndrome
Lowe syndrome (oculocerebrorenal syndrome) is characterized by involvement of the eyes, central nervous system, and kidneys. Dense congenital cataracts are found in all affected boys and infantile glaucoma in approximately 50%. All boys have impaired vision; corrected acuity is rarely better than 20/100. Generalized hypotonia is noted at birth and is of central (brain) origin. Deep tendon reflexes are usually absent. Hypotonia may slowly improve with age, but normal motor tone and strength are never achieved. Motor milestones are delayed. Almost all affected males have some degree of intellectual disability; 10%-25% function in the low-normal or borderline range, approximately 25% in the mild-to-moderate range, and 50%-65% in the severe-to-profound range of intellectual disability. Affected males have varying degrees of proximal renal tubular dysfunction of the Fanconi type, including bicarbonate wasting and renal tubular acidosis, phosphaturia with hypophosphatemia and renal rickets, aminoaciduria, low molecular-weight (LMW) proteinuria, sodium and potassium wasting, and polyuria. Fanconi syndrome is usually not clinically apparent in the first few months of life, but symptoms may appear by age six to 12 months. Glomerulosclerosis associated with chronic tubular injury usually results in slowly progressive chronic renal failure and end-stage renal disease after age ten to 20 years.

Associated genes

  • Also known as: RP3-454M7.1, INPP5F, LOCR, NPHL2, OCRL-1, OCRL1, OCRL
    Summary: oculocerebrorenal syndrome of Lowe

Clinical features

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  • Hematuria
  • Umbilical hernia
  • Hypokalemia
  • Hyponatremia
  • Proteinuria
  • Strabismus
  • Thrombocytopenia
  • Visual impairment
  • EEG abnormality
  • Abnormality of the pupil
  • Anemia
  • Failure to thrive
  • Areflexia
  • Wrist swelling
  • Short stature
  • Fine hair
  • Respiratory insufficiency
  • Hypercholesterolemia
  • Neonatal hypotonia
  • Long face
  • Deep philtrum
  • Periventricular cysts
  • Elevated amniotic fluid alpha-fetoprotein
  • Bicarbonaturia
  • Congenital cataract
  • Intellectual disability
  • Kyphosis
  • Hyperaldosteronism
  • Cognitive impairment
  • Opacification of the corneal stroma
  • Renal Fanconi syndrome
  • Low-set, posteriorly rotated ears
  • Open mouth
  • Long philtrum
  • Platyspondyly
  • Recurrent respiratory infections
  • Full cheeks
  • Delayed eruption of teeth
  • Micrognathia
  • Carious teeth
  • Seizures
  • Atelectasis
  • Cheilitis
  • Cataract
  • Glaucoma
  • Constipation
  • Malabsorption
  • Nystagmus
  • Reduced bone mineral density
  • Feeding difficulties in infancy
  • Dehydration
  • Functional abnormality of male internal genitalia
  • Cryptorchidism
  • Renal insufficiency
  • Abnormality of the renal tubule
  • Polycystic kidney dysplasia
  • Nephrocalcinosis
  • Abnormality of the palate
  • Gingivitis
  • Everted lower lip vermilion
  • Thin vermilion border
  • Mandibular prognathia
  • Abnormality of the pinna
  • Otitis media
  • Deeply set eye
  • Chorioretinal abnormality
  • Buphthalmos
  • Microphthalmos
  • Upslanted palpebral fissure
  • Lacrimation abnormality
  • Taurodontia
  • Abnormality of dental enamel
  • Dental malocclusion
  • Periodontitis
  • Aggressive behavior
  • Obsessive-compulsive behavior
  • Stereotypic behavior
  • Abnormality of the ribs
  • Nephrolithiasis
  • Hyperparathyroidism
  • Diabetes insipidus
  • Abnormality of the metaphyses
  • Atypical scarring of skin
  • Muscular hypotonia
  • Reduced tendon reflexes
  • Arthritis
  • Limitation of joint mobility
  • Joint hypermobility
  • Joint swelling
  • Subcutaneous nodule
  • Abnormality of the voice
  • Frontal bossing
  • Proximal renal tubular acidosis
  • Ventriculomegaly
  • Hypophosphatemia
  • Hypercalciuria
  • Neurological speech impairment
  • Scoliosis
  • Rickets
  • Osteomalacia
  • Pathologic fracture
  • Recurrent fractures
  • Hip dislocation
  • Genu valgum
  • Patellar dislocation
  • Hyperphosphaturia
  • Abnormality of lipid metabolism
  • Elevated serum acid phosphatase
  • Abnormality of the hip bone
  • Aminoaciduria
  • Involuntary movements
  • Abnormality of the epiphyses
  • Elevated maternal serum alpha-fetoprotein
  • Hypoplasia of dental enamel
  • Attention deficit hyperactivity disorder
  • Generalized hypopigmentation
  • Dense posterior cortical cataract
  • Aplasia/Hypoplasia of the lens
  • Neoplasm of the skin
  • Reduced number of teeth
  • Abnormality of dentin
  • Oligosacchariduria
  • Camptodactyly of finger
  • Hypoammonemia
  • Vitamin D deficiency
  • Abnormality of calcium-phosphate metabolism
  • Urogenital fistula
  • Odontogenic neoplasm
  • Self-injurious behavior
  • Glomerulopathy
  • Benign neoplasm of the central nervous system
  • Skin ulcer
  • Abnormal hair quantity
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