Genetic disorder characterized by an association of
mental retardation, dwarfism, hypertelorism, facial clefting, and urogenital
abnormalities. Other features include malar hypoplasia, large fontanelle,
cleft lip and palate, omphalocele, seizures, polycystic kidneys, and
Facial Cleft Syndrome, Gypsy type.
First was described in 1983 by G. Malpuech, a French
pediatrician, in four sibs of a Gypsy family. Ten patients, seven males and
three females, have been reported.
Inherited in an autosomal recessive mode.
Based on clinical stigmata and family history.
All individuals had facial malformations,
including cleft lip and palate, hypertelorism, and a wide forehead. All had
growth retardation, and 8 of 10 were mentally retarded. Other common
findings were arched eyebrows, proptosis, malar hypoplasia, and urogenital
malformations. Tear duct atresia, omphalocele or umbilical hernia, caudal
spine anomalies, and hearing loss are less common.
Facial malformations and associated
anomalies must be assessed prior to anesthesia.
Expect a difficult tracheal intubation
from malar hypoplasia and midline cleft. Whether Malpuech syndrome patients
with spinal malformations have an increased risk of latex allergy, as do
spina bifida patients, is not known.
No known implication with this
Krieble-Bixler Syndrome: Rare autosomal recessive disorder; nine
cases in seven families have been reported. Hypertelorism, microtia, and
clefting of lip or palate are the hallmarks of this syndrome. Other
associated features may include cardiac and urogenital defects, cleft nose,
limb anomalies, and possible (mild) mental retardation.
Craniosynostosis-Mental Retardation-Clefting Syndrome (Baraitser
Rodeck Garner Syndrome): In 1982, Baraitser et al. described a 5-year-old
girl with cleft lip and palate, bat ears, an oddly shaped skull,
hypertelorism, a prominent nasal bridge, bilateral coloboma, short forearms
and legs with stubby fingers, cystic dysplasia of the kidneys, and a seizure
disorder with developmental delay. In addition, her mother had another
pregnancy terminated because fetoscopy revealed similar malformations in a
Amiel J, Faivre L, Marianowskl R, et al: Hypertelorism-microtia-clefting
syndrome (Bixler syndrome): A report of two unrelated cases. Clin Dysmorphol
Crisponi G, Marras AR, Corrias A: Two sibs with Malpuech syndrome. Am J Med Genet
Guion-Almeida ML: Apparent Malpuech syndrome: Report of three Brazilian
patients with additional signs. Am J Med Genet