□ □
[□] □
□ □ □
DiagnosisThe diagnosis of Kenny-Caffey syndrome may be confirmed by x-ray studies of the skeleton that reveal distinctive thickening of the outer layers ( cortexes ) of long bones along with unusually thin marrow cavities . A diagnosis of DOOR syndrome may be confirmed based upon a thorough clinical evaluation , a detailed patient history , and specialized testing , such as x-ray studies . Should it be necessary to reinstitute treatment , or increase the dosage of the agent , or switch to a different antipsychotic agent , this syndrome may be masked . DiagnosisIn some cases , Tooth and Nail syndrome may be suspected at birth if one or more toenails and / or fingernails are absent . An anticholinergic syndrome is characterized by fever , tachycardia , agitation , hallucination , hypertension , skin flushing , dry mucous membranes , mydriasis , and blurred vision.Patients with muscimol-induced GABAergic syndrome present with lethargy , ataxia , dysarthria , sleep , and coma.A glutaminergic syndrome may be seen with ibotenic acid poisoning and presents with hallucinations , hyperactivity , ataxia , myoclonic jerks , and convulsions . Diagnosis Rubinstein-Taybi syndrome may be suspected at birth based upon a thorough clinical evaluation and identification of characteristic physical findings ( e.g ., growth retardation [ low percentile for length , weight , and head circumference ] , characteristic facial features , particularly a straight or " beak-like " nose ; broad thumbs and great toes ; narrow , highly-arched palate ; etc. ) . Again , this explanation would be more likely in the absence of physical findings of McCune-Albright syndrome.Infantile Cushing syndrome may be seen initially without other signs of McCune-Albright syndrome . DiagnosisThe diagnosis of Landau-Kleffner syndrome may be confirmed by a detailed patient history and a thorough clinical evaluation that includes repeated testing of the electrical activity of the brain ( electroencephalogram [ EEG ] ) . Should it be necessary to reinstitute treatment , or increase the dosage of the agent , or switch to a different antipsychotic agent , the syndrome may be masked . A recent review indicates that Nelson syndrome may be seen in anywhere from 8-44 % of patients who have undergone bilateral adrenalectomy for Cushing disease . DiagnosisDOOR syndrome may be suspected shortly after birth by the identification of certain characteristic physical features ( i.e ., bone , dermatoglyphic , and nail abnormalities ) . DiagnosisTricho-Dento-Osseous syndrome may be suspected shortly after birth ( postnatally ) based upon a thorough clinical evaluation , characteristic physical findings ( e.g ., extremely kinky hair , certain craniofacial abnormalities , dysplastic nails ) , and advanced imaging techniques . The diagnosis of Sly syndrome may be confirmed by a thorough clinical evaluation that includes a detailed patient history and specialized tests that measure the level of beta-glucuronidase activity in skin fibroblasts or blood leukocytes . A diagnosis of McCune-Albright Syndrome may be confirmed based upon characteristic physical findings ( i.e ., association of characteristic skin , bone , and endocrine abnormalities ) , a detailed patient history , thorough clinical evaluation , and specialized tests including x-ray studies and blood tests . Some researchers suggest that the classical form of Schwartz-Jampel syndrome may be divided into two distinct subgroups , depending upon the severity of associated skeletal abnormalities . The signs and symptoms of Carpal Tunnel Syndrome may be divided into three phases : ( 1 ) the usual early symptoms of tingling , numbness in the fingers , and later , pain ( for some reason the pain is more intense during the night ) ; ( 2 ) the later symptoms involve atrophy of the thenar muscles and the loss or impairment of the ability to grasp and pinch ; and ( 3 ) permanent nerve damage and loss of muscle control that could render the hand almost useless . DiagnosisIn some cases , the diagnosis of LEOPARD Syndrome may be suspected soon after birth due to the presence of numerous black or dark brown spots on the skin ( multiple lentigines ) in association with certain craniofacial abnormalities ( e.g ., ocular hypertelorism , mandibular prognathism , low-set , prominent ears ) and / or observable genital abnormalities ( e.g ., unilateral or bilateral cryptorchidism and / or hypospadias in affected males ) .