Caring for Patients with Malpuech Syndrome

Malpuech syndrome (also called Malpuech facial clefting syndrome or facial clefting syndrome, gypsy type) is a complex inherited autosomal recessive disorder manifested by a spectrum of symptoms, including cognitive and growth retardation, facial clefting, ocular dysmorphias (e.g., blepharoptosis), and urogenital anomalies. Intrauterine growth retardation (IUGR) is common among individuals with Malpuech syndrome during the prenatal stage.

Malpuech syndrome is one of a group of syndromes along with Michels, Mingarelli, and Carnevale syndromes, that result from mutations in the COLEC11 and MASP1 genes. These disorders are now collectively referred to as 3MC syndrome (also called the craniofacial-ulnar-renal syndrome). 3MC syndrome is further classified as 3MC syndrome 1 (3MC1), 2 (3MC2), or 3 (3MC3); Malpuech syndrome is now classified as 3MC3.

The COLEC11 and MASP1 genes encode proteins in the lectin complement pathway and are the first to be recognized as complement-related components responsible for inflammation, and the chemotaxis cascade in the pathogenesis of development disorders. Complications of 3MC syndrome include corneal clouding and anterior chamber defects, umbilical hernia, hearing loss, growth impairment, craniosynostosis (i.e., premature closing of skull sutures), cognitive delay, urogenital (e.g., micropenis), cardiac (e.g., atrial or ventricular septal defect), and/or skeletal anomalies. A study by Priolo et al. found psychiatric manifestations were present in a patient with Malpuech syndrome in long-term follow-up.

Diagnosis of 3MC3 can be difficult and is made with a thorough history/physical, and is based on the patient's distinctive facial features. Inclusion criteria for diagnosis are the presence of two major criteria such as cleft lip/palate and typical facial features in conjunction with two minor criteria that includes mental or growth retardation, urogenital anomalies, caudal appendage. There are no specific laboratory tests-other than genetic analysis-for the diagnosis of 3MC3. Patients with sexual infantilism and short stature require endocrinology evaluation of serum growth hormone levels. Diagnostic testing (e.g., testicular ultrasound, audiometric testing) is used to monitor for complications of 3MC3.

Treatment is supportive and individualized according to presentation and requires intervention from multiple specialties. Surgery is often required to repair the congenital malformations. Education about 3MC3's pathology and treatment should be provided to the family members. Specific statistics on the prognosis for patients with Malpuech syndrome is not provided in the medical literature.

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