Craniofacial Development and Cleft Lip/Palate

Flashcards on craniofacial development, embryonic palate timelines, cleft lip and palate classifications, genetic factors, feeding equipment, and associated syndromes.

Neural Crest Cells

Cells that develop in the embryo and migrate at different rates during embryological development to form facial structures.

Primary Palate

Structure formed during the 6th week of gestation consisting of the middle portion of the lip and a wedge-shaped portion in the anterior palate extending posteriorly to the incisive foramen.

Secondary Palate

The portion of the palate posterior to the incisive foramen, completely formed by the 10th - 12th week of gestation.

Cleft Lip

An abnormality in which the lip does not completely form during fetal development, ranging from a mild notch to a large opening extending into the nose.

Unilateral Cleft

A cleft abnormality affecting only one side of the lip or palate.

Bilateral Cleft

A cleft abnormality affecting both sides of the lip or palate.

Complete Cleft

An opening extending from the periphery completely through to the incisive foramen.

Incomplete Cleft

A cleft with only a slight opening on the periphery or extending to the incisive foramen with a minimal band or bridge of tissue remaining.

Multifactorial Inheritance

An inheritance pattern caused by a combination of multiple genes inherited from both parents along with environmental factors.

TBX22

A gene located at locus Xq21.1 associated with X-linked cleft showing an X-linked pattern of inheritance.

PVRL1

A gene located at locus 11q23.3 associated with Cleft-ectodermal dysplasia showing an Autosomal Recessive pattern of inheritance.

IRF6

A gene located at locus 1q32.2 associated with Van der Woude syndrome following an Autosomal Dominant pattern of inheritance.

NUK nipple

A feeding nipple for infants with clefts that can be placed on regular bottles or disposable bags, with a hole that can be enlarged via a crosscut.

Mead Johnson Nurser®

A soft, easily squeezable plastic bottle system equipped with a large crosscut nipple to assist feeding.

Haberman Feeder®

A specialized bottle system with a valve designed to control air intake and prevent milk from flowing back into the bottle.

Syndrome

A cluster of anomalies that occur together and have a single known or suspected cause.

Sequence

A series of secondary anomalies resulting from one initial anomaly.

Pierre Robin Sequence

A sequence resulting from interference with mandible (jaw) development around the 9th week of gestation, occurring in isolation or as part of a syndrome.

Van der Woude Syndrome

An autosomal dominant syndrome associated with chromosome 1 and the IRF6 gene locus.

Opitz Syndrome

An autosomal dominant disorder associated with chromosome 22 that may also be X-linked recessive, primarily affecting males.

Stickler Syndrome

An autosomal dominant disorder characterized by variable expression depending on which structures and functions are affected.

Velocardiofacial Syndrome

An autosomal dominant disorder characterized by a deletion on chromosome 22.

Unilateral Incomplete Cleft Lip

A cleft lip anomaly affecting one side that does not extend fully to the incisive foramen, leaving a bridge of tissue.

Unilateral Complete Cleft Lip

A cleft lip anomaly affecting one side that extends completely through the lip up to the incisive foramen.

Bilateral Complete Cleft Lip

A cleft lip anomaly affecting both sides, with complete openings through to the incisive foramen on both sides.

Scammon Growth Curves

Curves depicting differential growth trajectories for Lymphoid, Neural, and Somatic tissues relative to age in years.