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At a glance

A disorder associated with irregular pili torti, deafness, and hypogonadism with luteinizing hormone and growth hormone deficiency.


Seizures, Mental Retardation, Hair Dysplasia Syndrome.


Extremely rare disorder (one case report).

Genetic inheritance

Most likely autosomal recessive transmission.

Clinical aspects

Features include coarse hair with abnormal texture, low-set ears, epicanthic folds, broad nasal root, long philtrum, thin lips, short neck, hypoplastic/absent nipples, irregularly shaped fingers, and overlapping toes. Hypotonia, mental retardation, and seizures can be observed.

Precautions before anesthesia

The facial do not imply difficult airway management, but short neck could mean neck mobility is limited, thus a thorough clinical examination is encouraged. Anticonvulsant therapy should be continued until the morning of surgery and resumed as soon as possible postoperatively and given intravenously if oral intake is not possible. Developmental delay may cause agitation and stress in the perioperative period, thus anxiolytic and sedative premedication and/or presence of a parent (or primary caregiver) for induction of anesthesia may be beneficial.

Anesthetic considerations

Anesthesia associated with this disorder has not been described. No anesthetic considerations specific to this disorder are expected.

Pharmacological implications

Avoid epileptogenic drugs (eg, meperidine/pethidine) or drugs that decrease the seizure threshold in patients with seizures. Chronic anti-seizure treatment may interfere with the metabolism and elimination of other drugs that share the same metabolic pathways.


Coleman  M, Randall  J: Seizure disorder, mental retardation, unusual facies, and abnormal hair. J Clin Dysmorphol 1:28–29, 1983.  [PubMed: 6423779]

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