Phocomelia is a rare condition where the body produces too much amylase (a type of enzyme) which causes abnormal growth of certain organs such as the heart, lungs, liver or kidneys. It may cause other problems like diabetes mellitus and even death.
The symptoms are usually mild but they include shortness of breath, chest pain and sometimes sudden death. There are no known cures for it.
What Is Amylase?
Amylase is a protein that helps digest starch into glucose, which is used for energy. Glucose is the main source of fuel for cells in your body. When there’s too much amylase present, the pancreas doesn’t produce enough insulin to keep blood sugar levels from going out of control. Insulin keeps blood sugar level stable and prevents seizures, high blood pressure and other health issues associated with low blood sugar levels.
Amylase is produced in the pancreas when you eat food containing starches. If you don’t have enough amylase to break down these foods, then your body will not absorb them properly and you’ll end up having a spike in blood sugar levels. This can lead to a drop in blood sugar levels leading to hypoglycemia (low blood sugar). Hypoglycemia can result in confusion, hallucinations, lack of coordination and eventually unconsciousness.
Information on Phocomelia
Phocomelia is a rare congenital condition that causes malformations of the limbs (most commonly absence or underdevelopment of the hands and/or feet).
The word “phocomelia” comes from the Greek words: phoke, meaning seal, and melia, meaning limbs. Therefore, it literally means “seal limbs”.
In medical literature it is also referred to as mermaid syndrome.
Classification:
It is classified under a group of disorders known as birth defects.
Etiology:
The cause of this condition is not entirely known but it is thought to be caused by the use of certain drugs during pregnancy. In fact, about 90% of the cases are due to thalidomide (used to treat morning sickness in pregnant women) or its analogue lenalidomide (used to treat leprosy).
Another risk factor is viral infection during pregnancy.
In addition, it may be inherited or occur as a result of chromosomal abnormalities (such as in Down syndrome).
The exact mechanism of this condition is not known but studies have suggested that the cause may involve epigenetic changes (chemical modifications that alter DNA expression) to certain genes during fetal development.
Symptoms:
The most common signs and symptoms of this condition are absence or underdevelopment of the limbs, extra fingers or toes, fusion of digits (webbed hands and feet), and malformations of the foot.
Other findings may include abnormally short limbs, small or missing bones in the hands or feet, problems with internal organs (such as the heart, kidneys, and lungs), and other developmental problems.
Death in infancy and childhood is common; life expectancy in those that survive is variable.
Diagnosis:
Phocomelia is usually diagnosed prenatally (or in some cases, shortly after birth) based on symptoms and physical findings (such as lack of development or malformation of the limbs).
A blood sample may be taken from the mother to determine if she took thalidomide of its analogues.
Treatment:
Unfortunately, there is no effective treatment for this condition. Treatment may involve surgery in some cases to remove extra or underdeveloped limbs. Physical therapy may also be recommended to improve movement and function of limbs that remain.
Long-term outlook:
The long-term outlook of this condition depends on the specific manifestations present at birth, and how much disability results. Most children with this condition have serious disabilities and shortened life spans.
However, some infants who survive have been known to live into adulthood. Long-term survivors may experience short stature and poor growth.
Death usually results from heart problems or lung disease (such as bronchopneumonia).
Prognosis:
The prognosis is poor and most infants with this condition do not survive. Death may result from heart problems or lung disease (such as bronchopneumonia).
Disability results in most survivors.
If you have any questions or concerns, you should speak with your doctor.
Resources:
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Sources & references used in this article:
Tarsal coalitions–what you need to know by JO Afolayan, A Dinneen, A Sakellariou – Orthopaedics and trauma, 2016 – Elsevier
A Case of Phocomelia Associated with Severe Mental Deficiency by FE Kratter – Journal of Mental Science, 1959 – cambridge.org
What you need to know about Chiral Drugs: Nomenclature, Pharmacology, Mechanisms, Metabolism, Toxicology etc. An Overview.’ by DRH SABOOWALA – 2019 – books.google.com
A Study of the German Outbreak of Phocomelia by I JANUARY – jamanetwork.com
What you need to know about medication safety in pregnancy by WF Rayburn – OBG MANAGEMENT, 2007 – mdedge.com
The heart of a child: What families need to know about heart disorders in children by CA Neill, EB Clark, C Clark – 2003 – books.google.com
Lessons still to be learned from Thalidomide by CJ van Boxtel – International Journal of Risk & Safety in …, 2004 – content.iospress.com
