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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 deafness.

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 condition.

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 male fetus.

Amiel J, Faivre L, Marianowskl R, et al: Hypertelorism-microtia-clefting syndrome (Bixler syndrome): A report of two unrelated cases. Clin Dysmorphol 10:15, 2001.  [PubMed: 11152141]
Crisponi G, Marras AR, Corrias A: Two sibs with Malpuech syndrome. Am J Med Genet 86:294, 1999.  [PubMed: 10482884]
Guion-Almeida ML: Apparent Malpuech syndrome: Report of three Brazilian patients with additional signs. Am J Med Genet 58:13, 1995.  [PubMed: 7573149]

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