Lowe’s Syndrome

Lowe’s Syndrome

Significant craniofacial and/or oral features:
Facial dysmorphisms such as frontal bossing, deep-set eyes, chubby cheeks, & fair complexion
Dental cysts and dysplastic dentin formation of the teeth are found

Etiology:
Uncommon, X-linked disease
Hereditary defect affecting males only
Alteration in OCRL1 gene prevents production of PIP2-5-phosphate enzyme.

Prevalence:
1 in 500, 000

Age of Diagnosis:
Bilateral cataract and severe hypotonia are present at birth, with renal characteristics becoming evident in the weeks following birth. Psychomotor dysfunction is evident in childhood. Behavioral problems evolve during adolescence. Enzymatic and molecular testing available for prenatal as well as post-natal diagnosis of disease

Factors that influence dental care or require dental intervention:
Prior to treatment of patient, a review of medications as well as kidney function should be obtained. Patient may be on medications for seizure management;
The largest barrier to care with a Lowe’s Syndrome patient is behavior management

Associated systemic conditions:
Eyes: congenital bilateral cataract present at birth in all patients
50% have glaucoma
Kidneys: Fanconi-type renal tubular dysfunction
CNS: hypotonia, neonatal areflexia, mental developmental delays

Recent advances:

Factoids:
Also called the oculo-cerebro-renal (OCRL) syndrome
Life span rarely exceeds 40 years