<unk>  causes a wide range of medical and developmental problems. Congenital anomalies Cardiac anomalies are the most common congenital malformation in individuals with<unk> . However, there is no pathognomatic heart defect associated with the condition. Patent ductus arteriosus is the most common defect. Septal defects (ventricular septal defects and atrial septal defects) are also common, as are patent foramina ovalia. Other cardiac anomalies include mitral valve regurgitation, mitral valve prolapse, bicuspid pulmonary valve, hypoplastic transverse aortic arch, tricuspid valve regurgitation, right ventricular hypertrophy, and pulmonic stenosis. In males, cryptorchidism is common. Abnormal genitalia in females is not a common feature. Renal abnormalities have been reported in a minority of patients. Horseshoe kidney and bladder diverticuli have been reported. Other abdominal malformations, including pyloric stenosis and hernias, have also been reported, though they are present in only a minority of patients.Orthopedic anomalies also occur relatively frequently, with hip dysplasia being the most common orthopedic issue. Clubfoot and rocker bottom feet have also been reported.Myelomeningocele is another known feature associated with<unk> . Neonatal complications Neonatal complications (apart from congenital anomalies) are common. In a paper published in 2010, 41 of 42 individuals had some type medical problem in the first days of life, the most common being feeding difficulties. Respiratory difficulty and jaundice are also relatively frequent. ENT Recurrent otitis media is common, and many patients required the placement of PE tubes. Small ear canals are also fairly common, but not as much as in 18q-. Gastrointestinal The most common gastrointestinal abnormality is chronic constipation, though gastrointestinal reflux was also common. Endocrine Growth hormone deficiency is present in about 20% of people with<unk> . Neurologic Hypotonia and/or hypertonia are present in nearly all individuals with<unk> . Approximately 25% have a seizure disorder. Growth Short stature is common, with ~50% being at or below the 25th centile and 20% being at or below the 3rd centile. Microcephaly is present in about 40% of patients. Development All reported cases of<unk>  have some degree of intellectual disability. Most individuals score in the moderate range of intellectual disability based on standardized testing.
Tetrasomy 18p
Tetrasomy 9p
Monosomy 9p
Distal trisomy 10q
2q37 monosomy
Partial monosomy 13q
Small supernumerary marker chromosome
Chromosome 2q deletion