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 http://www.orphadata.org. Data version August 2026
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Acrofacial dysostosis, Catania type?
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Advocacy Organizations
PPP2CA Pathways
PPP2CA Pathways connects families, shares strength, and supports the research community in the search for answers to Houge-Janssens Syndrome type 3.
ReNU2 Foundation
ReNU2 Foundation supports families affected by RNU2-2-related neurodevelopmental disease. We foster collaboration, raise awareness, and advance research—pursuing a world where every family has testing, informed care, community, and treatment.
Uganda Alliance of Patients Organization
Supporting patients to access quality, safe and patient-centered healthcare services.
Wave of Support, Inc
Empowering those affected by bleeding disorders and other rare disease through advocacy, resources, education, and support
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Clinical Trials
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