BGDB Face and Ear - Abnormalities

Pharyngeal Abnormalities

There are terms for the different types of pharyngeal abnormalities, all of these except clefting are relatively rare.

Sinuses - a pharyngeal groove defect, when a portion of the groove persists and opens to the skin surface, located laterally on the neck.
Fistula - a pharyngeal membrane defect, a tract extends from pharynx (tonsillar fossa) beween the carotid arteries (internal and external) to open on side of neck.
Cysts -a cervical sinus defect, remants of the cervical sinus remains as a fluid-filled cyst lined by an epithelium.
Vestiges - a cartilaginous or bony developmental remnants that lie under the skin on side of neck.
Clefting - the way in which the upper jaw forms from fusion of the smaller upper prominence of the first pharyngeal arch leads to a common congenital defect in this region called "clefting", which may involve either the upper lip, the palate or both structures.

Embryo Cleft Lip and Palate

Embryonic clefting, ventral view (stage16)

Cleft lip and palate develop between the 4th and 8th week of gestation and is dominated by changes resulting in the formation of the nose. Palatal development occurs between the 7th and 12th week of gestation and is divided into the formation of the primary palate (prolabium), premaxilla and cartilaginous septum) and formation of the secondary palate (hard and soft palate).

300+ different abnormalities different cleft forms and extent upper lip and ant. maxilla hard and soft palate

Embryonic

Primary palate, fusion in the human embryo between week 6-7 (GA Week 8-9, stage 17 and 18), maxillary component of the first pharyngeal arch and the frontonasal prominence (philtrum) fuse from an epithelial seam to the mesenchymal bridge.

Fetal

Secondary palate, fusion in the human embryo in week 9-10 (GA week 11-12). Maxillary component of the first pharyngeal arch form lateral palatal shelves in the oral cavity that grow, elevation and fuse during this early fetal period. The fusion event is to both each other and the primary palate.

Fetal Cleft Ultrasound Movies

‎‎Cleft Lip 15 Week

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‎‎Cleft Lip 18 Week

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Movie shows a cleft lip in an 13 week (GA 15 weeks) fetus.

Movie shows a cleft lip in an 18 week fetus. Fetal facial clefting can be detected by ultrasound scans. A common form of facial abnormality is that of cleft lip and palate. This is associated with the way in which the maxillary processes of the first pharyngeal arch must grow and fuse.

A measurement of the facial cleft of 4.8 mm (between the 2 plus marks + +)

Clefting

The way in which the upper jaw forms from fusion of the smaller upper prominence of the first pharyngeal arch leads to a common congenital defect in this region called "clefting", which may involve either the upper lip, the palate or both structures.

Cleft Lip and Palate Classification

unilateral incomplete - cleft on one side of the lip that does not extend into the nose. unilateral complete - cleft on one side of the lip that extends into the nose. bilateral complete - cleft that involves both sides of the lip and extends into and involves the nose.

Stage16 cleft palate

Cleft Lip

International Classification of Diseases code 749.1 for isolated cleft lip and 749.2 for cleft lip with cleft palate

Australian national rate (1982-1992) 8.1 - 9.9 /10,000 births.
Of 2,465 infants 6.2% were stillborn and 7.8% liveborn died during neonatal period.
rate similar in singleton and twin births.

Uniateral Cleft Lip
Uniateral Cleft Lip
Complete Unilateral cleft lip and palate
Complete Unilateral cleft lip and palate
Complete bilateral cleft lip and palate
Complete bilateral cleft lip and palate

Cleft Palate

International Classification of Diseases code 749.0

Australian national rate (1982-1992) 4.8 - 6 /10,000 births.
Of 1,530 infants 5.5% were stillborn and 11.5% liveborn died during neonatal period.
slightly more common in twin births than singleton.

(Data: Congenital Malformations Australia 1981-1992 P. Lancaster and E. Pedisich ISSN 1321-8352)

Incomplete Cleft Palate (Involving only the soft palate and uvula)
Cleft palate 002.jpgComplete Cleft Palate (Completely involving the secondary palate)

Palate Links: palate | cleft lip and palate | cleft palate | head | Category:Palate

Fetal Alcohol Syndrome (FAS)

The following facial features may be associated with FAS

Microcephaly - leads to small head circumference
Palpebral fissure - short opening of eye
Epicanthal folds - fold of skin at inside of corner of eye
Midface - flat
Nasal Bridge - low
Philtrum - Indistinct, vertical grooves between nose and mouth
Upper Lip - thin
Micrognathia - small jaw
Ears - curve at top part of outer ear is underdeveloped and folded over parallel to curve beneath. Gives the appearance of a "railroad track"

Fetal Alcohol Syndrome face appearance

First Arch Syndrome

Pierre Robin sequence

There are 2 major types of genetic first arch syndrome, Treacher Collins and Pierre Robin, both result in extensive facial abnormalites.

Treacher Collins syndrome (TCS)

a rare autosomal dominant craniofacial disorder (1:50.000)
caused by frameshift deletions or duplications in the TCOF1 gene.
hypoplasia of the mandible and zygomatic complex
down-slanting palpebral fissures
coloboma of the lower eyelid
absence of eyelashes medial to the defect
external and middle ear malformation
conductive hearing loss

Links: Medline Plus - Pierre Robin Syndrome | Medline Plus - Treacher Collins Syndrome

Auricular Abnormalities

Microtia
Preauricular sinus
Preauricular tag
Preauricular tag

Additional Information

Additional Information - Content shown under this heading is not part of the material covered in this class. It is provided for those students who would like to know about some concepts or current research in topics related to the current class page.

Cephalic Disorders

Cephalic (Greek, kephale = head) are a group of abnormalities that relate to a wide range of skeletal (skull) and neural (brain) associated defects. Listed below are some selected skull defects.

Acephaly (absence of head)
Exencephaly (brain outside skull)
Macrocephaly (large head)
Micrencephaly (small brain)
Otocephaly (absence of lower jaw)
Brachycephaly (premature fusion of coronal suture)
Oxycephaly, also known as turricephaly (premature fusion of coronal suture + other)
Plagiocephaly (premature unilateral fusion of coronal or lambdoid sutures)
Scaphocephaly, also known as dolichocephaly (premature fusion of sagittal suture)
Trigonocephaly (premature fusion of metopic suture)

Abnormal Neonatal Skull (CT)
Scaphocephaly (Dolichocephaly)	Coronal Synostosis	Anterior Plagiocephaly
Oxycephaly (Turricephaly)	Posterior Plagiocephaly	Deformational Plagiocepahly
Trigonocephaly	Oxycephaly