Extremely rare syndrome with mental retardation,
hypertrichosis, and cataract. CAHMR is an acronym that stands for cataract,
hypertrichosis, and mental retardation.
Two cases in one family (a boy
and a girl) have been described. Inheritance is considered autosomal
recessive, given that the parents of the two patients were healthy first
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
Expect tracheal intubation to be
difficult secondary to the narrow, high arched palate. Depending on the
degree of pectus excavatum, pulmonary and cardiac function may be affected.
In order to obtain a good signal on the electrocardiogram, the skin in the
area where the electrodes are placed may require shaving. To prevent skin
burns, the same applies for the electrocautery plate.
Temtamy SA, Sinbawy AH: Cataract, hypertrichosis, and mental retardation
(CAHMR): A new autosomal recessive syndrome. Am J Med Genet