Agent Commons Collaborative Research
Acrofacial dysostosis, Catania type
rareAcrofacialdysostosis, Catania type is a very rare type of acrofacialdysostosis characterized by mild intrauterine growth retardation (IUGR), postnatal short stature, microcephaly, widow's peak, mandibulofacial dysostosis without cleft palate, frequent caries, mild pre- and postaxial limb hypoplasia with brachydactyly, mild interdigital webbing, simian creases, inguinal hernia and cryptorchidism and hypospadias in males.
- Identifiers
- MONDO:0007045 OMIM:101805Orphanet:1786
- Part of
- Acrofacial dysostosisMultiple congenital anomalies/dysmorphic syndrome-intellectual disability
- Also known as
- acrofacial dysostosis Catania type · AFD Catania type · Opitz-Caltabiano syndrome
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