MOMO Syndrome with Holoprosencephaly and Cryptorchidism: Expanding the Spectrum of the New Obesity Syndrome

Abstract

There are multiple genetic disorders with known or unknown etiology grouped under obesity syndromes. Inspite of having multisystem involvement and often having a characteristic presentation, the understanding of the genetic causes in the majority of these syndromes is still lacking. The common obesity syndromes are Bardet-Biedl, Prader-Willi, Alstrom, Albright's hereditary osteodystrophy, Carpenter, Rubinstein-Taybi, Fragile X, and Börjeson-Forssman-Lehman syndrome. The list is ever increasing as new syndromes are being added to it. One of the recent additions is MOMO syndrome, with about five such cases being reported in literature. Expanding the spectrum of clinical features, we report the first case of MOMO syndrome from India with lobar variant of holoprosencephaly and cryptorchidism, which have not been reported previously.

Hydranencephaly, pituitary hypoplasia, and anophthalmia in a male infant

“…In the literature, there are reported cases of HPE with micropenis and pituitary anomalies (Begleiter and Harris, 1980;Sultan et al, 1996), with an incomplete cleft of the soft palate and a multilobulated spleen (Chang, 2003), with cryptorchidism, eye anomalies, and infantile obesity (Sharda et al, 2011). A still-born infant is reported to have had microphthalmia, cleft palate, polydactyly, a small penis, cryptorchidism, and heart anomalies (Young and Madders, 1987).…”