Acrofacial Dysostosis, Catania Type

Description

The Catania type of acrofacial dysostosis is characterized by intrauterine growth retardation, short stature, microcephaly, intellectual disability, widow's peak, mandibulofacial dysostosis without cleft palate, ear anomalies, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, dental anomalies, and cryptorchidism and hypospadias in males (Opitz et al., 1993; Wulfsberg et al., 1996).

Clinical Features

Opitz et al. (1993) reported a 'new' form of acrofacial dysostosis in a Sicilian woman and her 4 sons. Features included mild intrauterine growth retardation and postnatal shortness of stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, mild pre- and more conspicuous postaxial upper limb involvement with short hands, simian creases, mild interdigital webbing, low total ridge count, and facultative preauricular fistulae, cryptorchidism, hypospadias, inguinal hernia, and spina bifida occulta of C1. The mother was as severely affected as her sons.

Wulfsberg et al. (1996) described a similar phenotype in a 5-year-old girl and her mother. In addition to typical manifestations of the syndrome, the mother presented with carious teeth in the lower jaw, and an edentulous upper jaw due to previous extraction of severely carious teeth.

Aguirre-Guillen et al. (2015) reported a female infant, born to healthy, unrelated parents, with typical features of the Catania type of acrofacial dysostosis, including short stature, malar hypoplasia, micrognathia, ear anomalies, downslanting palpebral fissures, prominent nose, webbed neck, hair anomalies, brachydactyly, single palmar crease, and spina bifida occulta. The patient did not have microcephaly, but brain imaging showed hypoplasia of the corpus callosum, cortical atrophy predominantly in the frontal region, cerebellar vermis hypoplasia, and large cisterna magna. The patient died at age 5 months from asphyxiation caused by food aspiration.

Inheritance

Although X-linked dominant inheritance of this form of acrofacial dysostosis was possible, Opitz et al. (1993) considered autosomal dominant inheritance more likely in the family they reported because the mother was as severely affected as her sons.