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Start free with EleplanOculocerebrorenal syndrome of Lowe
ORPHA:534Malformation syndrome
Also called Lowe disease · Lowe oculo-cerebro-renal dystrophy · Lowe oculo-cerebro-renal syndrome · Lowe oculocerebrorenal dystrophy · Lowe syndrome · OCRL
What it is
A rare multisystem disorder characterized by congenital cataracts, glaucoma, intellectual disabilities, seizures, postnatal growth retardation and renal tubular dysfunction with chronic renal failure.
Key facts
- Prevalence
- 1-9 / 1 000 000 (Europe)
- Age of onset
- Antenatal, Neonatal
- Inheritance
- X-linked recessive
- Classified as
- Malformation syndrome
Prevalence figures describe populations, not individuals, and are often estimates from a single study. Where the figure is an incidence or a birth prevalence, it says so.
Signs and symptoms
Very common80–99%
22- Abnormality of the voice
- Abnormal pupil morphology
- Abnormal renal tubule morphology
- Abnormal repetitive mannerisms
- Amblyopia
- Aminoaciduria
- Anxiety
- Aphasia
- Areflexia
- Cataract
- Dehydration
- Depression
- Glomerulopathy
- Hypercalciuria
- Hyponatremia
- Intellectual disability
- Neonatal hypotonia
- Nystagmus
- Proteinuria
- Proximal renal tubular acidosis
- Renal insufficiency
- Short stature
Common30–79%
35- Abnormality of calcium-phosphate metabolism
- Arthritis
- Attention deficit hyperactivity disorder
- Benign neoplasm of the central nervous system
- Buphthalmos
- Clonus
- Compulsive behaviors
- Constipation
- Cryptorchidism
- Deeply set eye
- EEG abnormality
- Failure to thrive
- Feeding difficulties in infancy
- Fine hair
- Frontal bossing
- Full cheeks
- Generalized hypopigmentation
- Glaucoma
- Hyperparathyroidism
- Hypokalemia
- Joint hypermobility
- Joint swelling
- Long face
- Low levels of vitamin D
- Neoplasm of the skin
- Osteomalacia
- Posteriorly rotated ears
- Protruding ear
- Recurrent fractures
- Scoliosis
- Seizure
- Self-injurious behavior
- Sparse scalp hair
- Thrombocytopenia
- Ventriculomegaly
These ranges are how often a sign appears across everyone diagnosed, not a prediction for one person — most people have some of these and not others. Orphanet also records findings that are specifically absent in this disease; those are in the data but not listed here.
Gene
ICD-10 codes
ICD-10 has no distinct code for most rare diseases, so many are filed under the nearest available one. A shared code identifies the group, not this disease — the ORPHAcode above is what identifies it.
Related health topics
Reached through the ICD-10 categories this disease is filed under, so these describe the broader group rather than this disease specifically.
Cross-references
Orphadata Science: Free access data from Orphanet. © INSERM 1999. Data version 2026-06-23. Available under CC BY 4.0. This is a reference, not medical advice.
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