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At a glance

It is a genetic disorder characterized by an association of mental retardation, dwarfism, hypertelorism, facial clefting (lip and palate), and caudal appendage. Other features include urogenital abnormalities (micropenis, hypospadias, renal anomalies), malar hypoplasia, large fontanelle, omphalocele, seizures, polycystic kidneys, and deafness. Cardiac and renal abnormalities may also be present.


Facial Cleft Syndrome; Gypsy type Facial Clefting Syndrome.


It was first described in 1983 by G. Malpuech, a French pediatrician, when he observed the association of symptoms in four sibs of a Gypsy family. At the time, the disease was highly suspected to be consanguineous.


The exact incidence remains unknown. Less than 20 patients have been reported in the literature.

Genetic inheritance

It is believed inherited as an autosomal recessive trait. Mutations in the COLLEC11 and MASP1 genes are suspected. This medical condition is suspected to be genetically part of a spectrum of congenital involving facial, urogenital and skeletal abnormalities.




Based on clinical stigmata and family history.

Clinical aspects

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.

Precautions before anesthesia

Facial malformations and associated anomalies must be assessed prior to anesthesia. The extend of the cleft lip and palate may lead to difficult airway management.

Anesthetic considerations

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.

Pharmacological implications

No known implication with this condition.

Other conditions to be considered

  • 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 ...

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