Sommer Rathbun Battles syndrome

Synonyms

Aniridia ataxia renal agenesis psychomotor retardation
Aniridia partial with unilateral renal agenesis and psychomotor retardation
Aniridia renal agenesis psychomotor retardation

Overview

Sommer rathbun battles syndrome is a rare genetic disorder characterized by missing irises of the eye, kidney developmental problems and mental retardation or it is characterized by missing irises of the eye, ataxia, psychomotor retardation and abnormal kidneys.

Symptoms

  • Underdeveloped kidneys
  • Anteverted nostrils
  • Absent iris
  • Depressed nasal bridge
  • Downturned corners of mouth
  • Glaucoma
  • Mental retardation
  • Short stature
  • Squint
  • Telecanthus
  • Premature closure of a skull bone
  • Communicating hydrocephaly
  • Corneal clouding
  • Frontal bossing
  • Corneal opacity
  • Hypotonia
  • Small jaw
  • Recessed jaw
  • Cognitive impairment
  • Craniosynostosis
  • Renal hypoplasia/aplasia
  • Strabismus

Note that Aniridia - renal agenesis - psychomotor retardation symptoms usually refers to various symptoms known to a patient, but the phrase Aniridia - renal agenesis - psychomotor retardation signs may refer to those signs only noticable by a doctor.

Causes

Basilar skull fracture. Battle's sign may be the only outward sign of basilar skull fracture, or it may be accompanied by periorbital ecchymosis (raccoon eyes), conjunctival hemorrhage, nystagmus, ocular deviation, epistaxis, anosmia, a bulging tympanic membrane (from CSF or blood accumulation), visible fracture lines on the external auditory canal, tinnitus, difficulty hearing, facial paralysis, or vertigo.

Resources

  • NIH