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.
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
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
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
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.