OMIM®:
57
Cardioacrofacial dysplasia-2 (CAFD2) is characterized by congenital cardiac defects, primarily common atrium or atrioventricular septal defect; limb anomalies, including short limbs, brachydactyly, and postaxial polydactyly; and dysmorphic facial features. Developmental delay of variable severity has also been observed (Palencia-Campos et al., 2020).
For a discussion of genetic heterogeneity of CAFD, see CAFD1 (619142). (619143) (Updated 08-Dec-2022)
MalaCards based summary:
Cardioacrofacial Dysplasia 2, also known as cafd2, is related to hypertelorism and polydactyly, postaxial, type a1. An important gene associated with Cardioacrofacial Dysplasia 2 is PRKACB (Protein Kinase CAMP-Activated Catalytic Subunit Beta). Related phenotypes are hypertelorism and mandibular prognathia
UniProtKB/Swiss-Prot:
73
An autosomal dominant disease characterized by dysmorphic facial features, congenital cardiac defects, primarily common atrium or atrioventricular septal defect, and limb anomalies, including short limbs, brachydactyly and postaxial polydactyly. CAFD2 patients may show developmental delay of variable severity, intellectual disability, autistic features and focal seizures.
