<unk>  causes a wide range of medical and developmental concerns, with significant variation in severity due to the variation in breakpoints reported in individuals with<unk> . Current research is focused on establishing genotype-phenotype correlations to enable predictive genotyping. Congenital anomalies Heart abnormalities are present in 25–35% of people with<unk> . The majority of these defects are septal. Congenital orthopedic anomalies are also relatively common, particularly rocker-bottom feet or clubfoot. Cleft lip and palate are relatively common in people with<unk> . Kidney abnormalities have also been reported and include horseshoe kidney, hydronephrosis, polycystic kidney, and absent kidney. Boys with<unk>  may have genital anomalies, the most frequent being cryptorchidism and hypospadias. Neurologic Hypotonia is a common finding. Around 10% of people with<unk>  have seizures. MRI abnormalities Dysmyelination is a common finding in people with<unk> , present in about 95%. Hypoplasia of the corpus callosum is also a common finding. Vision Strabismus and nystagmus are prevalent in<unk> . Changes in the optic nerve, as well as colobomas, are also fairly common. Myopia has been reported in some individuals. Ear and sinus infections Due to changes in facial structures, infants, toddlers, and children with<unk>  often have poor drainage from the middle ears, leading to a build-up of fluid. This can in turn lead to recurrent ear and sinus infections. Antibiotics are typically required to treat these infections. In addition, the diagnosis of ear infections in children with<unk> - is frequently complicated by stenosis or atresia of the ear canals, a common finding in people with<unk> . Hearing People with<unk>  frequently have conductive and/or sensorineural hearing loss. The degree of hearing loss may vary from mild to severe. Gastrointestinal Individuals with<unk>  may have problems with reflux. Hernias have also been reported. Genitourinary As mentioned above, males with<unk>  may have cryptorchidism. Hypospadias and chordee have also been reported. Also, a variety of kidney malformations have been reported in infants with<unk> , as noted above. Additionally, vesicouretereral reflux has been diagnosed in several people with<unk> . Orthopedics As mentioned above,<unk>  is associated with an increased incidence of clubfoot and rocker bottom feet. Also, a significant chance of developing pes planus or pes cavus exists. People with<unk>  frequently have overlapping toes. Scoliosis and genu varum are also known orthopedic complications in children and adults with<unk> . Growth Children and adults with<unk>  are often small for their age. Many people with<unk>  have an abnormal response to growth hormone stimulation. Those who have been treated with growth hormone have responded well to the treatment. Microcephaly is also common in people with<unk> . Thyroid Hypothyroidism has been reported in some people with<unk> . Immunology Several people with<unk>  have been diagnosed with low IgA levels, resulting in an increased incidence of infections. Psychiatry An increased incidence of psychiatric conditions occurs within the<unk>  population. In one study, nearly 60% had depressive symptoms, 60% had symptoms of an anxiety disorder, 25% had manic symptoms, and 25% had psychotic symptoms. However, this study included young patients, many of whom were too young to exhibit signs of certain psychiatric conditions. The typical age of onset for many of these conditions appears to be during the teen years. Thus, the results of this study may actually underestimate the true incidence of psychiatric conditions within this population. Outbursts, or anger issues, such as temper tantrums are also common. Cognition and adaptive skills 97% of individuals possess some form of intellectual disability, ranging from moderate to severe cases. The intellectual development of individuals with<unk>  vary quite widely. In one study of 46 individuals with<unk> , IQ ranged from 49 to 113, with most individuals falling in the mild to moderate range of intellectual disability. Some of those with IQ scores on the lower end of the spectrum probably actually had deletions encompassing the TCF4 gene. An increased incidence of autism is seen within the<unk>  population. In a recent study, 45 of 105 individuals evaluated fell into the "possible" or "very likely" levels of risk for autism. Adaptive skills may also be delayed in people with<unk> . Dysmorphology Common facial features include midfacial hypoplasia, short and downward- or upward-slanting palpebral fissures, epicanthic folds, and low-set ears with a prominent antihelix.
Distal 18q-
Dup15q
Xq28
Ring chromosome 18
Ring chromosome 15
714-X
Ring chromosome 22
18p-