Alopecia and severe growth retardation associated with
thoracic kyphoscoliosis, bilateral dislocated hips, and joint contractures
(elbows, fingers, knees). The presence of turridolichocephaly and prominent
nose are clues that assist in the diagnosis.
ACD Mental Retardation Syndrome.
Fewer than 10 cases have been reported.
Autosomal recessive. Consanguinity has been
reported in the parents of at least two patients.
Turridolichocephaly and a prominent nose associated with
severe growth retardation and alopecia are the most frequent features.
The most common clinical findings are
turridolichocephaly, prominent nose, large and soft ears, alopecia
(partialis or totalis), severe growth retardation with thoracic
kyphoscoliosis, bilateral dislocation of the hips, joint contractures, and
mild syndactyly with a short fifth digit. Telecanthus and marked myopia are
present in some patients. Mental retardation is severe, with an IQ of
approximately 40. Enamel dysplasia results in severe and multiple cavities.
Less frequent features include ichthyosis, hidrotic ectodermal dysplasia,
hypolacrimation, hypohidrosis, optic nerve atrophy with photophobia,
autoimmune thyroiditis, multiple skeletal anomalies (fusions of elbows,
carpals, metacarpals, spine), and recurrent respiratory infections.
Assess clinically the degree of kyphoscoliosis
and obtain pulmonary function tests if the degree of kyphoscoliosis is
significant. Obtain a chest radiograph. Arterial blood gas analysis may be
helpful in assessing ventilation in the presence of recurrent
aspirations/infections and/or kyphoscoliosis. Check the mobility of the neck
because vertebral fusion may result in difficult tracheal intubation if the
fusion affects the cervical spine. If kyphoscoliosis is severe,
postoperative mechanical ventilation may be necessary.
Mental retardation often results in
limited cooperation, and sedation prior to induction of anesthesia may be
helpful. Careful direct laryngoscopy is needed to prevent damage to already
compromised teeth. Careful positioning of the patient is required in view of
kyphoscoliosis and joint contractures. Avoid aggressive warming of the
patient if hypohidrosis is present. Keep the eyes well lubricated during
anesthesia (hypolacrimation). Vascular access may be challenging, depending
on the severity of the skin changes.
There are no specific implications
with this condition.
Schinzel A: A case of multiple skeletal anomalies, ectodermal dysplasia,
and severe growth and mental retardation. Helv Paediatr Acta
Dumic M, Cvitanovic M, Ille J, et al: Syndrome of short stature, mental
deficiency, microcephaly, ectodermal dysplasia, and multiple skeletal
anomalies. Am J Med Genet