IllnessAdams-Oliver syndrome, differential diagnosis

NGS +

Adams-Oliver syndrome presents with aplasia cutis congenita and limb malformations as well as additional symptoms. The areas of missing skin typically occur on the skull vertex with scars, in some cases the underlying bone is underdeveloped with absence of hair growth in the affected area. Limb abnormalities include abnormal nails, syndactyly, brachydactyly or oligodactyly. Other bones of the hands, feet or lower limbs may be malformed or missing. Affected infants may show cutis marmorata telangiectatica congenital, can develop life-threatening pulmonary hypertension or have heart or brain defects. In some cases, patients are developmentally delayed with learning problems. This syndrome follows autosomal dominant or recessive inheritance patterns. Mutations in the genes ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ allow to confirm the clinical diagnosis in little more than 50% of the cases.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK355754/

• Alias: Absence defect of limbs, scalp + skull
• Alias: Aplasia cutis congenita with terminal transverse limb defects
• Alias: Congenital scalp defects with distal limb anomalies
• Alias: Congenital scalp defects with distal limb reduction anomalies
• Alias: Limb, scalp and skull defects
• Allelic: Ablepharon-macrostomia syndrome (TWIST2)
• Allelic: Aortic valve disease 1 (NOTCH1)
• Allelic: Epidermolysis bullosa dystrophica inversa (COL7A1)
• Allelic: Epidermolysis bullosa dystrophica, AR (COL7A1)
• Allelic: Epidermolysis bullosa dystrophica, Bart type (COL7A1)
• Allelic: Epidermolysis bullosa dystrophica, localisata variant (COL7A1)
• Allelic: Epidermolysis bullosa pruriginosa (COL7A1)
• Allelic: Epidermolysis bullosa, pretibial (COL7A1)
• Allelic: Focal facial dermal dysplasia 3, Setleis type (TWIST2)
• Allelic: Glaucoma, primary closed-angle (COL18A1)
• Allelic: Toenail dystrophy, isolated (COL7A1)
• Allelic: Transient bullous of the newborn (COL7A1)
• Adams-Oliver syndrome 1 (ARHGAP31)
• Adams-Oliver syndrome 2 (DOCK6)
• Adams-Oliver syndrome 3 (RBPJ)
• Adams-Oliver syndrome 4 (EOGT)
• Adams-Oliver syndrome 5 (NOTCH1)
• Adams-Oliver syndrome 6 (DLL4)
• Aplasia cutis congenita, nonsyndromic (BMS1)
• Barber-Say syndrome (TWIST2)
• Branchiooculofacial syndrome (TFAP2A)
• Dyserythropoietic anemia, congenital, type Ia (CDAN1)
• Dyserythropoietic anemia, congenital, type Ib (CDIN1)
• Epidermolysis bullosa dystrophica, AD (COL7A1)
• Focal dermal hypoplasia (PORCN)
• Hypotrichosis-lymphedema-telangiectasia syndrome (SOX18)
• Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome (SOX18)
• Johanson-Blizzard syndrome (UBR1)
• Kabuki syndrome 1 (KMT2D)
• Kabuki syndrome 2 (KDM6A)
• Knobloch syndrome, type 1 (COL18A1)
• Scalp-ear-nipple syndrome (KCTD1)