Oculopalatoskeletal syndrome
Overview
A very rare syndrome characterized mainly by eye, mouth palate and skeletal abnormalities.
Symptoms
* Mental retardation * Premature fusion of skull bones * Abnormal skull shape * Droopy eyelids * Cleft lip
Causes
This disorder may produce bilateral lid lag and other ocular effects, including exophthalmos, infrequent blinking, eye dryness and discomfort, conjunctival injection, and a characteristic stare. (Thyrotoxicosis is the most common cause of unilateral and bilateral exophthalmos in adults and children.) Restricted eye movement may produce diplopia. Other effects include an enlarged thyroid, nervousness, heat intolerance, weight loss despite increased appetite, diaphoresis, diarrhea, tremors, palpitations, widened pulse pressure, and silken-smooth skin texture. Because thyrotoxicosis affects virtually every body system, it can produce many other findings. For example, central nervous system effects include clumsiness, shaky handwriting, and emotional lability. Integumentary effects include smooth, warm, flushed, and thickened skin with itchy patches; fine, soft hair with premature graying and increased loss; friable nails; and onycholysis. Cardiopulmonary involvement causes constant dyspnea; tachycardia; full, bounding pulse; widened pulse pressure; visible point of maximal impulse; and, occasionally, systolic murmur. Besides nausea and vomiting, GI findings include anorexia, diarrhea, and hepatomegaly. Musculoskeletal findings include weakness, fatigue, and atrophy, along with paralysis and, occasionally, acropachy. Women may report oligomenorrhea or amenorrhea; men may develop gynecomastia; both sexes may experience decreased libido.
Diagnosis
Because the patient isn’t generally able to recognize a lid lag himself, ask a friend or family member if he has noticed it. If so, ask when he first noticed lid lag or its possible manifestation, incomplete closure of the eyelid. Explore other signs and symptoms, and ask about a history of thyroid disease. Next, perform a physical examination, focusing on the effects of thyrotoxicosis, such as an enlarged thyroid, diaphoresis, tremors, and exophthalmos.
Treatment
Stress the importance of complying with drug therapy (such as antithyroid drugs or therapeutic radioactive iodine). Subtotal thyroidectomy may be required in rare cases.