This condition is also called Acrocephalosyndactyly, which means a domed shape of the head with fusion of the fingers. Read more.
BWS is caused by changes in activity of genes that either suppress or promote growth of cells in the body. Common characteristics of BWS include enlarged tongue, large body size (or one side of the body being bigger than the other), omphalocele, and hypoglycemia. Read more.
Birthmarks are areas of abnormal skin color in a variety of sizes, shapes and colors that are present at birth or appear within a few weeks of birth in about 10%-30% of babies. Read more.
The brachial plexus is a sub-network of peripheral nerves that originate in the neck region and branch off to control movement and sensation in the shoulders, arm, forearm and hand. Read more.
A capillary malformation is a flat, sharply defined small or large pink, red or purple birthmark, consisting of small blood vessels that may be found anywhere on the body, but most frequently on the head/neck area. Read more.
Cerebral palsy (CP) is a disorder affecting a child’s ability to move in a coordinated manner. Read more.
The acronym CHARGE is given to children who had a cluster of features occurring together. CHARGE is caused by a change (“mutation”) in a gene called the CHD7 on chromosome 8. Read more.
A cleft is a division or separation of parts of the lip, or roof of the mouth that did not close during the early months of fetal life. The lip and palate are present; they just did not fuse together. Read more.
Surgery for cleft lip is usually performed when the child is between 4 and 6 months of age. Read more.
Craniofacial is a broad medical term that describes abnormalities of the bones of the skull and face. Read more.
Crouzon syndrome was first described in 1912 by Dr. Crouzon This condition is also called Craniofacial Dysostosis (condition involving the bone of the face). Read more.
Foot disorders refer to structural abnormalities related to the feet. Read more.
Hemangiomas of Infancy are the most common vascular tumors in infants. Read more.
Common clinical characteristics are underdeveloped upper and lower jaw, underdeveloped facial muscles and surrounding bones, underdevelopment of the outer ear (microtia), ear tags, middle ear anomalies, hearing loss, vertebral anomalies. Read more.
Macrodactyly is marked by the presence of an enlarged finger or toe on a newborn. Read more.
Macroglossia, or enlargement of the tongue, is one of the hallmark features of BWS. It affects approximately 90 percent of children with BWS. Read more.
Moebius Syndrome is a rare condition which it primarily affects the 6th and 7th cranial nerves, leaving those with the condition unable to move their faces (they can’t smile, frown, suck, grimace or blink their eyes) and unable to move their eyes laterally. Read more.
Oligodactyly is the presence of fewer than five fingers or toes on the hand or foot. Read more.
Pfeiffer syndrome was first described in 1964 by Dr. Pfeiffer. This condition is also called Acrocephalosyndactyly –Pfeiffer –type which means “tall” head with variable fusion of the fingers. Read more.
Common clinical characteristics of Pierre Robin Sequence are micrognathia (small lower jaw) or retrognathia (set back lower jaw), glossoptosis (displacement of the tongue to the back of the throat), cleft palate. Read more.
It is a condition characterized by a flattening of the skull on one side or on the back of the head. Read more.
One of the more common conditions of the hand is called polydactyly and presents as extra fingers on the hand. Read more.
Radial dysplasia, present at birth, is a condition in which the radius bone in the forearm is underdeveloped or absent. Read more.
Symbrachydactly is a hand abnormality present at birth that affects only a single limb. Characteristics include short, stiff, webbed or missing fingers. Read more.
Syndactyly is a condition in which a baby's fingers or toes do not fully separate during pregnancy. Read more.
Treacher Collins described two patients with features of this condition in 1900. Additional description of the condition was made by Franceschetti and Klein. They called the condition Mandibulofacial Dysostosis (abnormal bone formation of the face). Read more.
Vascular malformations are congenital lesions, resulting from abnormal development of arteries, veins or lymphatic system vessels. Read more.