Kyphosis brachyphalangy optic atrophy


Kyphosis brachyphalangy optic atrophy (medical condition): A rare condition characterized by eye and skeletal problems Kyphosis brachyphalangy optic atrophy: Another name for Berk-Tabatznik syndrome (or close medical condition association). Berk-Tabatznik syndrome: A rare condition characterized by eye and skeletal problems.


The list of signs and symptoms mentioned in various sources for Berk-Tabatznik syndrome includes the 10 symptoms listed below: * Optic atrophy * Spastic quadriparesis * Growth deficiency * Cervical kyphosis * Small distal phalanges * Hemivertebral wedging * Vertebral wedging * Short stature * Impaired vision * Impaired hearing Note that Berk-Tabatznik syndrome symptoms usually refers to various symptoms known to a patient, but the phrase Berk-Tabatznik syndrome signs may refer to those signs only noticable by a doctor.


* Papilledema: Lasts seconds, bilateral * Amaurosis fugax: Lasts minutes, unilateral * Vertebrobasilar artery insufficiency: Lasts minutes, bilateral * Migraine: Lasts 10–60 minutes * Impending central retinal vein occlusion * Ocular ischemic syndrome (carotid occlusive disease) * Sudden change in blood pressure; orthostatic hypotension o Transient acute increase in intraocular pressure (e.g., acute angle closure glaucoma, retro- or peribulbar hemorrhage) * Vision loss >24 hours: Sudden, painless Retinal artery or vein occlusion * Ischemic optic neuropathy (must rule out giant cell/temporal arteritis to prevent permanent bilateral vision loss) * Vitreous or aqueous hemorrhage (hyphema) * Retinal detachment * Other retinal or CNS disease (e.g., cortical blindness due to occipital lobe CVA) * Exposure (“Welder's flash”) or prolonged exposure to intense sunlight


Routine diagnostic studies include a CBC, sedimentation rate, urinalysis, chemistry panel, arthritis panel, tuberculin test, and x-rays of the chest, thoracic spine, lumbar spine, and the hips. If there is a productive cough, a sputum for AFB smear and culture should be made. If muscular disease is suspected, a muscle biopsy may be done. If menopause is suspected, a serum FSH and LH and serum estradiol can be done. A bone scan may identify pathologic fractures and ankylosing spondylitis. An HLA B27 antigen test should be ordered if ankylosing spondylitis is suspected. A bone biopsy may clear up the diagnostic dilemma.