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Very rare disorder characterized by severe absence deformities of all four limbs (tetraamelia), hypotrichosis, abnormal teeth, hypoplastic nipples and areolae, and deformed auricles. Consistent features include hypogonadism, thyroid enlargement, incomplete cleft lip, mental retardation, and electrocardiographic (ECG) and electroencephalographic (EEG) abnormalities.

Odontotrichomelic syndrome

Almost 2-year-old boy presenting tetramelia as part of odontotrichomelic syndrome, although his ears and nipples do not show any obvious dysplasia. However, hypogonadism is present, and a cleft lip/palate had been surgically repaired earlier.

Odontotrichomelic Hypohidrotic Dysplasia; Freire-Maia Syndrome; Tetramelic Deficiency Syndrome.

Extremely rare disorder most probably inherited as an autosomal recessive pattern.

Presents most often with severe absence deformities of all four extremities, abnormal teeth, hypoplastic nipples, malformation of the ears, absent or decreased eyelashes and eyebrows, and hypotrichosis. Other less frequent signs include nail anomalies, hypogonadism, thyroid enlargement and dysfunction, cleft lip, ECG and EEG abnormalities, and growth and mental retardation. Increased concentrations of tyrosine and/or tryptophane in the urine have been reported. Decreased sweating is a feature.

Preoperative echocardiography to assess cardiac function is recommended. In case of decreased sweating, atropine should not be used and hyperthermia must be prevented. Thyroid function should be evaluated preoperatively. Vascular access may be difficult because of limb anomalies. Parental consanguinity is suspected to be responsible for this disorder, which is often lethal in infancy or early childhood.

Cat I, Costa O, Freire-Maia N: Odontotrichomelic hypohidrotic dysplasia: A clinical reappraisal. Hum Hered 22:91, 1972.  [PubMed: 5036639]
Freire-Maia N: A newly recognized genetic syndrome of tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities. Am J Hum Genet 22:370, 1970.

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