Lowe syndrome is a rare X-linked disorder characterized by bilateral congenital cataracts, renal Fanconi syndrome, and mental retardation.

Synopsis

 systemic anomalies

• short stature
• failure to thrive

 ocular anomalies

• congenital cataract (males)
• glaucoma
• microphthalmia
• corneal keloid
• fine lens opacities (carrier females)
• dense, posterior cortical cataract (carrier females)

 dental anomalies

• enlarged dental follicles
• dental follicular cyst
• enamel hypoplasia

 cryptorchidism
 renal failure
 joint hypermobility
 osteomalacia
 renal rickets

 skeletal anomalies

• scoliosis
• kyphosis
• patyspondyly
• hip dislocation
• genu valgum
• finger swelling
• wrist swelling

 tenosynovitis
 flexion contractures of the digits

 cutaneous appendages tumors

• sebaceous cysts (buttocks and perineum)
• eruptive vellus hair cysts

 subcutaneous nodules (fingers)
 ventriculomegaly
 periventricular cysts
 proximal renal tubular acidosis
 renal Fanconi syndrome

 In female heterozygotes: opthalmologic abnormalities

• multiple, micropunctate, gray lens opacities
• single, dense posterior cataract

 sporadic tumor description

• retinoblastoma (#10779271#)
• acinic cell carcinoma of the parotid gland (#9125068#)

Etiology

 mutations in the OCRL1 gene, which encodes a phosphatidylinositol-4,5 bisphosphate-5-phosphatase located in the trans-Golgi network (PIP(2)-5-phosphatase deficiency). This anomaly affects actin polymerization. (#12428211#)

• also mutated in the Dent syndrome

References

 Pendaries C, Tronchere H, Plantavid M, Payrastre B. Phosphoinositide signaling disorders in human diseases. FEBS Lett. 2003 Jul 3;546(1):25-31. PMID: #12829232#