A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with growth failure, lip/palate cleft(s), and urogenital anomalies

Abstract

In four children from the same family, we have observed an association of mental retardation, dwarfism, hypertelorism, facial clefting and urogenital abnormalities. Clinical and laboratory data suggest that it is a previously undescribed genetic syndrome, ie, a pleiotropic autosomal recessive trait.

Malpuech facial clefting syndrome in a Japanese boy with cardiac defects

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SummaryWe reported on a Japanese boy similar to the patients previously reported by Malpuech et al (1983) with mental and growth retardation, hypertelorism, bilateral cleft lips, cleft palate, and urogenital anomalies. He also had undescribed cardiac defects.

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“…Although Klippel-Feil syndrome, acrocallosal syndrome, Malpuech facial clefting syndrome, MALPUECH FACIAL CLEFTING SYNDROME Roberts syndrome, Varadi-Papp syndrome, and 10p trisomy were selected as candidates fulfilled with these 6 findings, only Malpuech facial clefting syndrome (MIM 248340) was considered highly similar to our patient. Malpuech facial clefting syndrome was based on one Gypsy pedigree in France involved four reported patients, three stillborn children and seven other relatives with similar anomalies (Malpuech et al, 1983). The cardinal findings found in all of the four cases were severe postnatal growth retardation (-3 to -4 SD), moderate mental retardation (DQ 45 to 60), cleft lip (three cases were bilateral, and one case unilateral), cleft palate, and hypertelorism.…”

“…A new autosomal recessive malformation syndrome had been reported in three sibs and one male cousin as well as three stillborn children and even other suspected relatives from highly inbred Gypsy families in France (Malpuech et al, 1983). Cardinal findings consisted of mental retardation, postnatal growth retardation, hypertelorism, bilateral or unilateral cleft lips, cleft palate, and urogenital anomalies.…”

Michels syndrome, Carnevale syndrome, OSA syndrome, and Malpuech syndrome: Variable expression of a single disorder (3MC syndrome)?

“…The tip of the nose may be bifid. Malpuech syndrome was initially observed in an inbred gypsy family [Malpuech et al, 1983]. On pictures, mild blepharophimosis may be present, although it is not mentioned in the reports.…”

The Study of MASPs Knockout Mice

“…3MC syndrome (Malpuech-Michels-Mingarelli-Carnevale syndrome) are four rare autosomal recessive disorders (Carnevale, et al, 1989) (Mingarelli, et al, 1996) (Malpuech, et al, 1983) (Michels, et al, 1978). This syndrome shows facial dysmorphic traits.…”