Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]

Years Published 1995, 2001, 2003, 2009 The information in NORD’s Rare Disease Database is for educational purposes only and is not intended to replace the advice of a physician or other qualified medical professional. [rarediseases.org]

The specific surgical procedures performed will depend upon the nature and severity of the anatomical abnormalities, their associated symptoms, and other factors. [rarediseases.org]

In addition, in some affected infants, there may be protrusion (herniation) of a portion of the intestine into the canal that passes through lower muscular layers of the abdominal wall (inguinal hernia). [rarediseases.org]

Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]

In severe cases, congenital heart disease may lead to potentially life-threatening complications. In some individuals with the disorder, Chromosome 9, Partial Monosomy 9p may also be characterized by genital defects. [rarediseases.org]

Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]

Diagnosis In some instances, Chromosome 9, Partial Monosomy 9p may be suggested before birth (prenatally) by specialized tests such as ultrasound, amniocentesis, and/or chorionic villus sampling (CVS). [rarediseases.org]

Such abnormalities have included sudden episodes of uncontrolled electrical activity in the brain (seizures), widely spaced nipples, abnormal curvature of the spine, and/or, more rarely, incomplete closure (clefting) of the palate (cleft palate), bony [rarediseases.org]

In affected males, such abnormalities may include a small penis (micropenis); undescended testes (cryptorchidism); and/or abnormal placement of the urinary opening (hypospadias), such as on the underside of the penis. [rarediseases.org]

Some individuals may show no apparent symptoms (asymptomatic), while others may develop difficulties feeding, shortness of breath, profuse sweating, irritability, easy fatigability, bluish discoloration of the skin and mucous membranes (cyanosis), and [rarediseases.org]

For individuals affected by seizures, treatment may include the administration of anticonvulsant medications to help prevent, reduce, or control seizure episodes. [rarediseases.org]