Inheritance is believed to be autosomal recessive,[1] caused by mutation in the CHST14 (carbohydrate sulfotransferase 14) gene.

[2] This syndrome is characterised by typical facial appearance, slight build, thin and translucent skin, severely adducted thumbs, arachnodactyly, club feet, joint instability, facial clefting and bleeding disorders, as well as heart, kidney or intestinal defects.

Severe psychomotor and developmental delay and decreased muscle tone may also be present during infancy.

[3] The syndrome is associated with microcephaly, arthrogryposis and cleft palate and various craniofacial, respiratory, neurological and limb abnormalities, including bone and joint defects of the upper limbs, adducted thumbs, camptodactyly and talipes equinovarus or calcaneovalgus.

Patients often have respiratory difficulties such as pneumonia, and from seizures due to dysmyelination in the brain's white matter.