The following is a list of medical conditions that may be relevant in persons suffering from Kabuki Syndrome. It is important to note, that every child is different and may not suffer from the following conditions.
Click each medical condition to find out more.
A cleft lip is an opening in the upper lip. Normally the lip is formed by the union of two tabs of tissue that grow in from the sides of the face with a central tab that grows down from the tip of the nose. Click here to find out more.
A cleft palate is an opening in the roof of the mouth. In the first eight weeks of pregnancy, bone and tissue normally grow in from the sides of the upper jaw to join in the middle and form the roof of the mouth (called the ‘palate’). Click here to find out more.
Many people with a small or single kidney have excellent health with no problems. The chances of complications or problems developing depend on the cause and severity in each individual. The specialist should advise each individual about problems that could develop in their case. Click here to find out more.
The ectopic kidney is generally sited in the pelvis although it may be found anywhere in the abdomen. In some instances an ectopic kidney may be fused to a normal kidney. Click here to find out more.
Kidney stones occur due to abnormal and excessive accumulation of stone forming substances in urine which are normally dissolved due to presence of substances which inhibit stones formation like citrate, pyrophosphates. Click here to find out more.
Hydrops fetalis is a severe, life-threatening problem of severe oedema (swelling) in the foetus and newborn. It is also called hydrops.
Pleural effusion is the abnormal accumulation of fluid in the pleural space, the potential space between the lungs and the chest wall. Click here to find out more.
Bronchopulmonary dysplasia involves abnormal development of lung tissue. It is characterised by inflammation and scarring in the lungs. It develops most often in premature babies, who are born with underdeveloped lungs. Click here to find out more.
Pulmonary hypertension (PH) is a serious condition characterized by abnormally high blood pressure in the pulmonary arteries, which carry blood from the right side of the heart to the lungs. Click here to find out more.
Subaortic stenosis (SAS), also known as subvalvular aortic stenosis, is a rare congenital heart defect characterized by a narrowing of the left ventricular outflow tract (LVOT) just below the aortic valve, leading to obstruction of blood flow from the left ventricle to the aorta. Click here to find out more.
Pulmonary stenosis is a congenital heart defect characterized by the narrowing of the pulmonary valve, which regulates blood flow from the right ventricle to the pulmonary artery, thereby impeding blood flow to the lungs. Click here to find out more.
Coarctation of the aorta (COA) is a congenital heart defect characterized by a narrowing of the aorta, the main artery that carries oxygen-rich blood from the heart to the body. Click here to find out more.
Necrotising enterocolitis (NEC) is a serious, life-threatening intestinal disease primarily affecting premature or very low birth weight infants, and is the most common gastrointestinal emergency in neonatal intensive care units. Click here to find out more.
Undescended testicle, also known as cryptorchidism, is a condition where one or both testicles fail to descend from the abdomen into the scrotum before birth. It is the most common genitourinary malformation in male children, affecting approximately 3% of full-term male infants and up to 30% of premature infants. Click here to find out more.
A nasogastric (NG) tube is a small, flexible tube inserted through the nose, down the throat, and into the stomach to deliver nutrition, fluids, medications, or to remove stomach contents. It is used when a person cannot eat, drink, or swallow adequately due to conditions affecting appetite, chewing, swallowing, or for temporary nutritional support during illness or recovery. Click here to find out more.
A bilateral hernia refers to the presence of hernias on both the right and left sides of the groin, specifically within the inguinal canals, which are passageways in the lower abdominal wall. Click here to find out more.
Hypotonia is a state of low muscle tone (the amount of tension or resistance to stretch in a muscle), often involving reduced muscle strength. Hypotonia is not a specific medical disorder, but it is a potential manifestation of many different diseases and disorders that affect motor nerve control by the brain or muscle strength. Click here to find out more.
A seizure is a sudden disruption of brain activity caused by hypersynchronous neuronal firing, resulting in temporary changes in behavior, movement, sensation, awareness, or consciousness. Click here to find out more.
Grommets, also known as ventilation tubes or tympanostomy tubes, are small, inert plastic tubes inserted into the eardrum to treat persistent middle ear fluid (glue ear) or recurrent ear infections. Click here to find out more.
Microcephaly is a rare neurological condition characterized by a significantly smaller head size than expected for a child's age and sex, typically defined as a head circumference more than two standard deviations below the mean for age and sex, though some definitions use three standard deviations. It results from abnormal brain development during fetal growth or after birth, often due to insufficient neural stem cell proliferation, impaired neurogenesis, or neuronal death. Click here to find out more.
Hip dysplasia is an abnormality of the hip joint where the socket portion does not fully cover the ball portion, resulting in an increased risk for joint dislocation. Click here to find out more.