Acrofacial dysostosis, Catania type

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Acrofacial dysostosis, Catania type

Synonyms: Opitz-Caltabiano syndrome

A rare congenital acrofacial dysostosis characterized by mild intrauterine growth retardation postnatal short stature microcephaly intellectual disability moderate mandibulofacial dysostosis (including dental anomalies and/or malpositioning microretrognathia and malar hypoplasia) and mild pre- and postaxial limb hypoplasia with generalized brachydactyly mild interdigital webbing single transverse palmar creases and clinodactyly. Reported facial features include high forehead widow’s peak downslanted palpebral fissures sparse lateral eyebrows and small or dysplastic ears. Variably associated features include frequent caries preauricular fistulae inguinal hernia spina bifida occulta and cryptorchidism and hypospadias in males.

Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.

Reference: Access aggregated data from Orphanet at Orphadata.

Orphadata: Free access data from Orphanet. © INSERM 1999. Available on Data version December 2023

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