Genomics Glossary
Camptodactyly: Permanent flexion contracture of a finger or toe.
Clinodactyly: Permanent curving of the fifth finger, usually toward the other fingers; also seen for other fingers or toes.
Epicanthal folds: Skinfolds covering the inner corners of the eyes. Epicanthal folds occur commonly in infants and may persist in persons of certain ancestries.
“Hockey stick” palmar crease: Transverse flexion crease of the palm close to the fingers; widens like the end of a hockey stick and ends between the second and third fingers.
Palpebral fissure length: Distance between the inner and outer corners of one eye.
Philtrum: Vertical groove between the nose and upper lip; a flat or smooth philtrum can present in persons with fetal alcohol spectrum disorders.
Ptosis: Drooping of the upper eyelids.
“Railroad track” ears: The top part (curve) of the outer ear is underdeveloped, folded over, and parallel to the curve beneath it, giving the appearance of a railroad track.
Vermilion border: Edge of the lip where it meets the skin of the face
Fetal Alcohol Spectrum Disorders
Am Fam Physician. 2005 Jul 15;72(2):279-285.
This article exemplifies the AAFP 2005 Annual Clinical Focus on the legal, social, clinical, and ethical issues of medical genomics.
To complement the 2005 Annual Clinical Focus on medical genomics, AFP will be publishing a series of short reviews on genetic syndromes. This series was designed to increase awareness of these diseases so that family physicians can recognize and diagnose children with these disorders and understand the kind of care they might require in the future. The second review in this series discusses fetal alcohol syndrome and fetal alcohol spectrum disorders.
Fetal alcohol spectrum disorders (FASD) are caused by the effects of maternal alcohol consumption during pregnancy.
Figure 4.
Characteristic features of an ear of a child with fetal alcohol spectrum disorders. Note the underdeveloped upper part of the ear parallel to the ear crease below (“railroad track” appearance).
Figure 5.
Characteristic features of a hand of a child with fetal alcohol spectrum disorders. Note the curved fifth finger (clinodactyly) and the upper palmar crease that widens and ends between the second and third fingers (“hockey stick” crease).
Regardless of one's race;
A baby with fetal alcohol syndrome may have the following symptoms:
- Poor growth while the baby is in the womb and after birth
- Decreased muscle tone and poor coordination
- Delayed development and problems in three or more major areas: thinking, speech, movement, or social skills
- Heart defects such as ventricular septal defect (VSD) or atrial septal defect (ASD)
- Problems with the face, including:
- Narrow, small eyes with large epicanthal folds
Epicanthal fold
An epicanthal fold is skin of the upper eyelid that covers the inner corner of the eye. The fold runs from nose to the inner side of the eyebrow.
Epicanthal folds
- Smooth groove in upper lip
- Smooth and thin upper lip
- The outcome for infants with fetal alcohol syndrome varies. Almost none of these babies have normal brain development.Infants and children with fetal alcohol syndrome have many different problems, which can be difficult to manage. Children do best if they are diagnosed early and referred to a team of health care providers who can work on educational and behavioral strategies that fit the child's needs.
Erin
“My name is Erin, and I am an adult with Fetal Alcohol Syndrome. And this is why my jewelry is made the way it is. The reason why there are wrong colored beads in my jewelry is to show that I may look perfect on the outside but on the inside I’m not. Let me tell you a little bit of my story. A few summers ago while watching TV with my mom a commercial came on for a show called “I didn’t know I was pregnant” and my mom said I know your old enough to know this now, but your birth mom didn’t know she was pregnant with you, due to all the years she had been drinking. It took me days, even weeks to process this, I really didn’t know how to feel. I had two choices, one to be angry and wonder why God didn’t let her know she was pregnant with me, so maybe she would stop. Or consider my life a miracle, and thank God for protecting me the months I was in her. So that’s what I chose. God is amazing. I have had many difficulties growing up with FAS. The learning aspect and the social aspect has been hard due to the effects of prenatal exposure to alcohol. I was born blind in my right eye and am unable to drive because of it. But that hasn’t stopped me from accomplishing other things like making and selling my jewelry! I am proud to be a SAFA member and help others with FASD like me!”Back to top.
Drinking alcohol during pregnancy may result in:- Miscarriage or stillbirth
- Premature delivery
Complications seen in the infant may include: - Abnormal heart structure
- Behavior problems
- Infant death
- Intellectual disability
- Problems in the structure of the head, eyes, nose, or mouth
- Poor growth before birth
- Slow growth and poor coordination after birth
