An unrelated male and female with this malformation syndrome have been reported in 2017 which is named for the authors of the original descriptions.
This is a complex malformation syndrome with maldevelopment of skull and facial bones leading to facial anomalies. The fusion and development of the bones in the skull occur unevenly resulting in abnormal shaping. The bones of the midface are underdeveloped and those of the eye sockets are deficient leading to a prominent appearance of the eyes with an increased distance between them. The upper eyelids may have a defect called a coloboma and may not completely cover the eyeball.
The neck is broad and the shoulders may be narrow. The ears are low, small, and unusually cupped. The fingers are long and may be partially fixed in a flexed position with some soft tissue webbing (syndactyly). The palate is high and may be cleft. Both reported individuals have some developmental delay/learning difficulties. The male had an imperforate anus, undescended testes, and hearing loss. The abnormal oral and respiratory cavity anatomy required a breathing tube in the female from birth and surgery was required for relief of gastric reflux.
Mutations in a specific gene are responsible for this condition. These mutations seem to have occurred de novo since they were not present in the parents. The severity of the malformations are likely to preclude reproduction but the complete clinical features are unknown. The inheritance pattern is unknown but likely autosomal dominant.
The facial and skull malformations are characteristic which may allow diagnosis at birth. Pediatricians, neurologists, ophthalmologists, and neonatalogists may collaborate in the diagnosis. Respiratory assistance may be required from birth. Developmental delays such as walking and talking, and intellectual development are delayed. There is no treatment for the general condition but individual malformations such as those of the lids and the cleft palate may require surgical treatment.
Decreased longevity is likely but the two reported patients were still living in early childhood.