This is an inherited syndrome of malformations recently reported in a small number of families.
The skull is mildly shortened from front to back. The midface is flat and the mandible (lower jaw) is often prominent. The eyes are widely-spaced and often appear 'bulging' or prominent. The eyebrows are unusually bushy and the upper eyelids may have a notch. Glaucoma and cataracts as well as some deformation of the corneas (windshield of the eye) have been reported in a few individuals. The openings between the lids slant downward.
The teeth may be small, abnormally formed, and are often lost early. Imaging may reveal cysts around the roots of the teeth and the enamel is not formed normally. Partial fusion of parts of the vertebrae is sometimes noted. Some intellectual disability is a common feature which is more evident in older individuals. Hearing loss is common. There may be some mild clefting of the palate. The sternum is sometimes unusually prominent but in other patients appears depressed.
The urethral opening is abnormally placed in most males. Undescended testes have been reported as well.
A change in the DNA (mutation) of both members of a specific pair of genes is the cause of this disorder. Most parents are related to each other and no parent-to-child transmission has been reported. The most likely pattern of transmission is considered to be autosomal recessive. The carrier parents with one mutated gene are clinically normal but the offspring of two such parents each have a 25% risk of having this condition.
The nondiagnostic nature of most signs makes it unlikely that this disorder is immediately recognizable at birth. A team of pediatricians, dentists, radiologists, and medical geneticists are likely to collaboratively make the diagnosis.
Little is known regarding the natural history of this condition. No treatment is available for the general condition but the eyelids and the oral clefts may be surgically repaired. Special education and assistive hearing devices could be helpful.
Nothing is known regarding longevity.