This is a malformation and development disorder with widespread features due to a specific gene mutation.
Certain facial features present from birth can suggest this disorder. The eyes are far apart and the lids often droop (ptosis). The eyebrows are high and bushy while the lid opening slopes downward. The eyelashes are long. The eyes may not be lined up properly (strabismus) and often have random movements (nystagmus).
The ears are large and low-set. The mouth is large with downturned corners and the nose appears bulbous. The teeth are often widely spaced. Feeding difficulties are common. Muscle tone is decreased (floppy infant) and some individuals have balance problems. Intellectual difficulties are evident while aggressive behavior and features of autism may be present. Speech is sometimes slurred or even absent.
Heart and kidney anomalies are often present. MRIs of the brain show maldevelopment and underdevelopment in general. Undescended testes are common.
No transmission pedigrees have been published and reports of this syndrome consist of descriptions of isolated individuals. A single gene mutation has been found in these individuals and the transmission of this condition (if reproduction is possible) would be expected to follow an autosomal dominant pattern, i.e., half of the offspring would be expected to be affected.
Many features (floppiness and facial features) of this syndrome are evident at birth. However, most of the characteristics are nondiagnostic and a test for the mutation is necessary to confirm the diagnosis. Milestones such as the beginning of speech may be delayed and intellectual disability becomes evident.
There is no treatment for the general disorder. Physical therapy and speech therapy may be beneficial. Special education likewise should be recommended. Nothing is known regarding longevity.