Version June 2024
| Syndrome | ACC clinical phenotype | Associated features | Mode of inheritance |
| Adams-Oliver syndrome | Large, stellate, irregular-shaped, ill-defined scalp defect | Terminal transverse limb defects | Autosomal dominant, autosomal recessive, sporadic |
| Chromosome 16 to 18 defect | Large scalp defects | Arteriovenous malformation of the scalp with underlying bony defect | |
| Johanson-Blizzard syndrome | Membranous aplasia cutis and small stellate defects of the frontal scalp | Dwarfism, mental retardation, deafness, hypothyroidism, pancreatic insufficiency | Autosomal recessive |
| Opitz syndrome | Membranous aplasia cutis | Hypertelorism, cleft lip/palate, hypospadias, cryptorchidism | |
| Oculocerebrocutaneous syndrome (Delleman syndrome) | Membranous aplasia cutis | Orbital cysts, cerebral malformations, facial skin tags, seizures, developmental delay | |
| Setleis syndrome (focal facial dermal dysplasia) | Temporal aplasia cutis | Imperforate anus, upward slanting eyebrows, leonine facies | Autosomal recessive |
| Trisomy D (13 to 15) | Membranous aplasia cutis | Holoprosencephaly, seizures, ocular abnormalities, deafness, neural tube defects, congenital heart defects, cleft lip and palate | |
| X-p22 microdeletion syndrome | Bilateral, linear, reticulated defects of the malar cheeks | Microphthalmia, sclerocornea | |
| 4p deletion syndrome | Not specified | Mental retardation, deafness, seizures, ocular abnormalities | |
| Marfan syndrome | Erosions on the vertex and occipital scalp | Arachnodactyly, dolichonychia | Autosomal dominant [FBN‐1 sequencing, c.6391T>C (p.Cys2131Arg)] |
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