Inherited syndrome characterized by anomalies of the
eyes and extremities and mental delay.
Extremely rare syndrome in which
both autosomal dominant and recessive inheritance have been suggested,
although the recessive mode is favored.
Stigmata of this syndrome are mental retardation,
iris colobomata or aniridia, obesity, short stature, postaxial polydactyly,
and hypogenitalism. Occasionally, absent incisor teeth, hydrocephalus,
arachnoid cysts, cryptorchidism, and hypospadias are found.
No reports exist about this syndrome in
the context of anesthesia. Mental retardation can affect the cooperation of
the patient, and sedative premedication and/or the presence of the primary care-giver for induction of anesthesia may be helpful.
Bardet-Biedl Syndrome: Characterized by mental retardation,
pigmentary retinopathy, polydactyly, obesity, renal anomalies, and
Laurence Moon Syndrome (LMS): Autosomal recessive inherited syndrome
with mental retardation, congenital cardiac disease, pigmentary retinopathy,
hypogenitalism, and spastic paraplegia.
Alström Syndrome: Inherited syndrome with progressive visual
and hearing loss, diabetes mellitus, and cardiac, hepatic, and renal
Rubinstein-Taybi Syndrome: Most often occurs sporadically and less
often autosomal dominantly inherited. Characterized by broad thumbs and
halluces and dysmorphic facies. Mental and physical development delayed.
Cardiac, vertebral, and other anomalies.
Verloes A, Temple IK, Bonnet S, et al: Coloboma, mental retardation,
hypogonadism, and obesity: Critical review of the so-called Biemond syndrome
type 2, updated nosology, and delineation of three “new” syndromes. Am J Med Genet