Odontotrichomelic Syndrome

At a glance

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.

Synonyms

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

Incidence

Extremely rare disorder, fewer than 10 patients described. Possible consanguinity. Sporadic.

Genetic inheritance

Autosomal recessive.

Clinical aspects

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 tryptophan in the urine have been reported. Decreased sweating is a feature.

Anesthetic considerations

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.

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