Term Name: | acrofacial dysostosis, Catania type |
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Synonyms: | Opitz Mollica Sorge syndrome, Opitz-Caltabiano syndrome |
Definition: | An acrofacial dysostosis that is characterized by intrauterine growth retardation, short stature, microcephaly, cleft palate, limb hypoplasia, simian creases and cryptorchidism/hypospadias. |
Ontology: | Human Disease [DOID:0060384] ( DOID:0060384 ) |