Symptoms vary amongst individuals with the syndrome and ranges from cutis aplasia congenita (mild skin defects of the scalp appearing in isolation) to large defects of the scalp with underlying bony defects causing exposure of cranial contents (the inside of the skull) as well as other organ involvement. Limb involvement may result in shortening of limbs causing an overall reduction in height for the affected individual. In very severe cases, limbs may be absent. Other abnormalities in addition to scalp and limb involvement have been described and include:
- vascular abnormalities, including multisystem arteriovenous malformation (a condition where there are abnormal connections between veins and arteries affecting multiple systems in the body)
- craniofacial abnormalities, such as cleft lip and/or palate
- learning disability
- supernumerary nipples (where there are extra nipples present)
- wooly hair
- multiple skin tags.
These wide-ranging symptoms are thought in part to be related to the mode of inheritance, with a milder form of the syndrome associated with an autosomal recessive inheritance.