Differentiating<unk><unk>  syndrome from other similarly presenting diseases is crucial as the treatment protocol varies with the diagnosis.  The diagnosis should be alleged when developmental delay is associated with kidney stones (nephrolithiasis) or blood in the urine (hematuria), caused by uric acid stones. For the most part,<unk><unk>  syndrome is first suspected when self-inflicted injury behavior develops. However, self-injurious behaviors occur in other conditions, including nonspecific mental retardation, autism, Rett syndrome, Cornelia de Lange syndrome, Tourette syndrome, familial dysautonomia, choreoacanthocytosis, sensory neuropathy including hereditary sensory neuropathy type 1, and several psychiatric conditions. Of these, only individuals with<unk><unk>  syndrome, de Lange syndrome, and familial dysautonomia recurrently display loss of tissue as a consequence. Biting the fingers and lips is a definitive feature of<unk><unk>  syndrome; in other syndromes associated with self-injury, the behaviors usually consist of head banging and nonspecific self-mutilation, but not biting of the cheeks, lips and fingers.<unk><unk>  syndrome ought to be clearly considered only when self-injurious behavior takes place in conjunction with hyperuricemia and neurological dysfunction.
Lesch-Nyhan syndrome differential diagnosis
Caplans syndrome differential diagnosis
Sezary syndrome differential diagnosis
Fragile X syndrome differential diagnosis
Noonan syndrome differential diagnosis
Sheehan's syndrome differential diagnosis
Amaurosis fugax differential diagnosis
Hamartoma differential diagnosis