Emanuel syndrome

Medical quality assurance by Dr. Albrecht Nonnenmacher, MD at January 3, 2017
StartDiseasesEmanuel syndrome

Emanuel syndrome is a genetic disorder characterized by intellectual disability and low muscle tone (hypotonia). It results from chromosomal abnormalities and is a congenital disorder. Developmental delays tend to be severe. It is also referred to as supernumerary der(22) syndrome. Much is still being researched about this relatively newly discovered disorder.


Definition & Facts

Emanuel syndrome is an exceptionally rare inherited disorder. Its incidence is unknown due to its rarity, though estimates range in the low hundreds. According to Chromosome 22 Central, an online support group for families affected by the disease, Emanuel syndrome was named after Dr. Beverly Emanuel in 2004 of University of Philadelphia and the Children’s Hospital of Philadelphia.

Infants born with this condition are at the greatest risk of mortality within the first month of their lives. Symptoms of this condition are severe and diverse, especially those that pertain to congenital heart defects. A team of specialists will need to be assembled in order to manage care for the patient and his or her family.

Symptoms & Complaints

Symptoms include craniofacial deformities, severe mental retardation, microcephaly, malformations of the ears, cleft lip and cleft palate, club foot, and various congenital heart defects.

Cleft lip and palate are birth defects in which the palate or roof of the mouth does not close properly, leading to a range of problems with eating, swallowing, and talking. Club foot describes the birth defect in which the foot is sideways or twisted out of shape at birth. Microcephaly describes a head that is significantly smaller than normal.

Examples of congenital heart defects include atrial septal defects and patent ductus arteriosus. The former involves a hole in the septum that separates the upper two chambers of the hearts. Symptoms include shortness of breath and heart palpitations. Patent ductus arteriosus involves the ductus arteriosus which is connects the aorta and the pulmonary artery not closing properly. Symptoms include rapid breathing and poor feeding.

Micropenis and crytorchidism (an undescended testicle) may present among male babies. Delays in motor skills, speech problems involving deficits in both speaking and understanding, and difficulty walking are also symptoms of this disorder. Acrochordons (or skin tags) may also be present.

Inguinal hernias may also occur among those with Emanuel syndrome. These are also called groin hernias. An inguinal hernia results from a weaknesses in the muscle of the abdominal wall that has resulted in tissue from within the abdominal cavity bulging out. Fecal incontinence (the inability to control one's bowels) as well urinary incontinence (the inability to control's urinary output) are also symptoms of this condition.

Seizures are another symptom of this condition. These are bursts of electrical activity in the brain that can cause severe symptoms and sometimes brain damage. Tonic-clonic seizures, febrile seizures, and absence seizures are all types of seizures that people with this condition may experience.


Emanuel syndrome is caused by the presence of an extra chromosome that is inherited. Material from chromosome 11 and chromosome 22 are joined together to form an extra chromosome. (Ordinarily people have 46 chromosomes which includes the sex chromosomes). This excessive genetic substance obstructs the normal processes of the genes and results in the abnormalities that are present.

The parents of those with this condition do not have the condition; they have a balanced translocation (where the pieces of the chromosomes have been rearranged) which becomes unbalanced during the process of passing on their genes. The unbalanced translocation results in the offspring being born with the extra chromosome.

Diagnosis & Tests

Because of the systemic and wide-ranging nature of the symptoms that this disorder causes, diagnosing Emanuel syndrome involves taking a plethora of tests to examine various parts of the body for abnormalities and dysfunction. This includes ultrasounds to check the kidneys; echocardiograms to detect congenital heart defects; and tests and evaluations to identify deficits in hearing, speaking, cognition, and movement.

Physical examinations will be undertaken to identify facial abnormalities and birth defects such as cleft lip and cleft palate. The patient's ears and mouth will also be examined for structural abnormalities.

Further examples of imaging studies include computed tomography (CT) scans and magnetic resonance imaging (MRI) scans. Encephalograms will be conducted to examine the child's neurological processes.

Treatment & Therapy

Treating Emanuel syndrome involves a multi-pronged approach. A team of specialists must be brought together including cardiologists, speech-language therapists, physical therapists, and specialists in special education, among other experts. Physical therapy (to help with hypotonia), occupational therapy, and special education will likely be life-long treatment approaches.

Surgery may be required to address some of the structural abnormalities caused by the condition. Surgery for inguinal hernia may opted for. Two different types of surgery used to treat inguinal hernias include open hernia repair and laparoscopic surgery. The latter is less invasive. In either scenario, incisions are made to repair the muscular wall that had become weakened and the protrusion or bulge minimized.

Surgery to address cleft lip and cleft palate could involve palatoplasty which closes the split in the roof of the mouth. An orchiopexy is a procedure in which an undescended testicle is lowered surgically into the scrotum and may be undertaken in order to address a child's crytorchidism (that is, undescended testicle).

Anticonvulsant drugs are used to treat seizures. These include diazepam, lorazepam, clonazepam. Vagus nerve stimulation is another treatment approach that can help mitigate the symptoms of seizures.

Those with this condition will likely need the assistance of a walker, wheelchair, and other assistive devices to enable mobility. While most children do learn to walk with this condition, most do not learn how to speak.

Anecdotally, there are cases of people with this condition into their 40's though research remains limited due to the disorder's rarity about the exact life expectancy rates of those with this condition.

Prevention & Prophylaxis

Preventing this condition is impossible because it is a genetic disorder. However, undergoing genetic testing can help a person determine whether or they are risk of passing on this genetic disorder to their children. A blood test can determine whether or not a person has a translocation. Other family members may choose to partake as well.