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At a glance

An extremely rare syndrome with mental retardation, hypertrichosis, and cataract. CAHMR is an acronym that stands for CAtaract, Hypertrichosis, Mental Retardation Syndrome.


Two cases in one family (a boy and a girl) have been described.

Genetic inheritance

Considered autosomal recessive, given that the parents of the two patients were healthy first cousins.


Based on the clinical findings.

Clinical aspects

Both children had congenital lamellar cataracts, a narrow and high-arched palate, and generalized hypertrichosis, predominately affecting the back, shoulders, and sides of the face. Other reported features include microdontia, pectus excavatum, and mental retardation.

Precautions before anesthesia

Assess dental status and mouth with regards to loose teeth and palate anomalies, respectively. Depending on the degree of pectus excavatum, pulmonary and cardiac function may be affected. Developmental delay and visual impairment (cataract) 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

Airway management could be awkward due to narrow, high-arched palate. Careful laryngoscopy is required to avoid dental injury. In order to obtain good skin contact for the ECG electrodes, shaving in the area may be required. To prevent skin burns, the same applies for the placement of the electrocautery plate.

Pharmacological implications

None specific to this syndrome.


Temtamy  SA, Sinbawy  AH: Cataract, hypertrichosis, and mental retardation (CAHMR): A new autosomal recessive syndrome. Am J Med Genet 41:432, 1991.  [PubMed: 1776632]

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