BGDB Face and Ear - Abnormalities

From Embryology
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Practical 6: Trilaminar Embryo | Early Embryo | Late Embryo | Fetal | Postnatal | Abnormalities | Quiz


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

These are listed as two separate abnormalities as they occur at different developmental times and two processes of patale formation.

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 01.jpg

Cleft lip 02.jpg
 ‎‎Cleft Lip 15 Week
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Cleft lip 01.jpg
 ‎‎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

Cleft palate feeder

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. Most clefting can be surgically repaired postnatally, though cleft lip and palate generates feeding and nutrition issues related to the inability of forming a "liquid seal" and separation of the respiratory space from the oral space. There are specially developed feeding devices for babies with cleft lip and palate.

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

Cleft Palate - Australia (1981-1992)[1]

Australian Palate Abnormalities (2002-2003)[2]

Bilateral cleft lip and palate.
Cleft lip with or without cleft palate (9.2 per 10,000 births) ICD-10 Q36.0, Q36.1, Q36.9, Q37.0–Q37.5, Q37.8, Q37.9
A congenital anomaly characterised by a partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate. Excludes a midline cleft of the upper or lower lip and an oblique facial fissure (going towards the eye).
  • 17% of the affected pregnancies were terminated in early pregnancy or resulted in fetal deaths. Most of the fetal deaths or terminations of pregnancy (95%) had multiple abnormalities.
  • more commonly seen in males than in females.
  • babies born before 25 weeks of gestation, 150 per 10,000 births had this anomaly. Most babies (80.0%) were born at term with a birthweight of 2,500 grams or more.
  • Maternal age group was not associated with the anomaly.
  • Rates significantly higher among Indigenous women than non Indigenous women.
Australian Palate Abnormalities (2002-2003)  
Cleft lip with or without cleft palate (9.2 per 10,000 births) ICD-10 Q36.0, Q36.1, Q36.9, Q37.0–Q37.5, Q37.8, Q37.9
A congenital anomaly characterised by a partial or complete clefting of the upper lip, with or without clefting of the alveolar ridge or the hard palate. Excludes a midline cleft of the upper or lower lip and an oblique facial fissure (going towards the eye).
  • 17% of the affected pregnancies were terminated in early pregnancy or resulted in fetal deaths. Most of the fetal deaths or terminations of pregnancy (95%) had multiple abnormalities.
  • more commonly seen in males than in females.
  • babies born before 25 weeks of gestation, 150 per 10,000 births had this anomaly. Most babies (80.0%) were born at term with a birthweight of 2,500 grams or more.
  • Maternal age group was not associated with the anomaly.
  • Rates significantly higher among Indigenous women than non Indigenous women.
Cleft palate without cleft lip (8.1 per 10,000 births) ICD-10 Q35.0–Q35.9
A congenital anomaly characterised by a closure defect of the hard and/or soft palate behind the foramen incisivum without a cleft lip. This anomaly includes sub-mucous cleft palate, but excludes cleft palate with a cleft lip, a functional short palate and high narrow palate.
  • overall rate has increased to 9.1 when the rate was estimated using data from the four states that include TOP data. The reported number of fetal deaths or early terminations of pregnancy with this anomaly was small and these deaths or terminations could be due to other associated anomalies.
  • proportion of females with this anomaly was higher (56.9%) than males.
  • 52.7 per 10,000 babies born before 25 weeks of gestation.
  • 83.0% were born at term and most of the babies (82.7%) had a birthweight of 2,500 grams or more.
  • Women aged 40 years or older and women born in South Central America or the Caribbean region had the highest rates of affected births.
  • Multiple births had a significantly higher rate of affected babies than singleton births.
  • Rates did not differ significantly by Indigenous status or areas of residence.
Links: Palate Development | Head Development | Gastrointestinal Tract - Abnormalities | ICD-10 GIT | Australian Statistics
Reference: Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.

Cleft Palate

Cleft palate
Cleft palate without cleft lip (8.1 per 10,000 births) ICD-10 Q35.0–Q35.9
A congenital anomaly characterised by a closure defect of the hard and/or soft palate behind the foramen incisivum without a cleft lip. This anomaly includes sub-mucous cleft palate, but excludes cleft palate with a cleft lip, a functional short palate and high narrow palate.
  • overall rate has increased to 9.1 when the rate was estimated using data from the four states that include TOP data. The reported number of fetal deaths or early terminations of pregnancy with this anomaly was small and these deaths or terminations could be due to other associated anomalies.
  • proportion of females with this anomaly was higher (56.9%) than males.
  • 52.7 per 10,000 babies born before 25 weeks of gestation.
  • 83.0% were born at term and most of the babies (82.7%) had a birthweight of 2,500 grams or more.
  • Women aged 40 years or older and women born in South Central America or the Caribbean region had the highest rates of affected births.
  • Multiple births had a significantly higher rate of affected babies than singleton births.
  • Rates did not differ significantly by Indigenous status or areas of residence.


Palate Links: Palate Development | Cleft Lip and Palate | Cleft Palate | Head Development | Category:Palate


Genetic - 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

Environmental - Fetal Alcohol Syndrome (FAS)

FASface.jpg

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

Environmental - Infections

A range of prenatal and perinatal viral and bacterial infections can seriously impact upon development of sensory systems, including both hearing and vision. In addition, some medications have been shown to be ototoxic, particularly for the newborn.


Links: Rubella Virus | Cytomegalovirus | TORCH Infections

Auricular Abnormalities

Pre-auricular fistulae and appendage locations.jpg


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.


Ventral view of adult skull showing cleft palate.

Adult Skull Cleft Palate Images: skull unlabeled | skull with labeled excerpt | skull overlaying excerpt


Palate Links: Palate Development | Cleft Lip and Palate | Cleft Palate | Head Development | Category:Palate


Midfacial Developmental Defects

Akiko Suzuki, Dhruvee R Sangani, Afreen Ansari, Junichi Iwata Molecular Mechanisms of Midfacial Developmental Defects. Dev. Dyn.: 2015; PubMed 26562615


"Despite the advances in human genome sequencing technology, the causes of nearly 70% of all birth defects, which include midfacial development defects, remain unknown."

Hearing Loss

Mammalian auditory hair cells do not spontaneously regenerate, once damaged or lost they are not replaced. Hearing loss due to the loss of hair cells is permanent.


Global Orofacial Cleft Rate (1950 - 2015)
This data is from a study of the published data (1950 - 2015)[3]
Continent Orofacial cleft rate /1,000 live births (95% confidence interval)
Asia 1.57 (1.54-1.60)
North America 1.56 (1.53-1.59)
Europe 1.55 (1.52-1.58)
Oceania 1.33 (1.30-1.36)
0.99 (0.96-1.02)
Africa 0.57 (0.54-0.60)
  • American Indians 2.62 per 1,000 live births (highest prevalence rates)
  • Japanese 1.73
  • Chinese 1.56
  • Whites 1.55
  • Blacks 0.58 (lowest prevalence rates)


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)
Skull CT abnormal 01.jpg

Scaphocephaly (Dolichocephaly)

Skull CT abnormal 02.jpg

Coronal Synostosis

Skull CT abnormal 03.jpg

Anterior Plagiocephaly

Skull CT abnormal 04.jpg

Oxycephaly (Turricephaly)

Skull CT abnormal 05.jpg

Posterior Plagiocephaly

Skull CT abnormal 06.jpg

Deformational Plagiocepahly

Skull CT abnormal 07.jpg

Trigonocephaly

Skull CT abnormal 08.jpg

Oxycephaly

Skull CT Images: Normal overview | Normal vertex and lateral | Normal endocranial and vertex | Normal Vertex - Fontanels | Dolichocephaly and Scaphocephaly | Coronal Synostosis | Anterior Plagiocephaly | Turricephaly | Posterior Plagiocephaly | Deformational Plagiocepahly | Trigonocephaly | Oxycephaly | Computed Tomography
Links: Head Abnormalities | Skull Abnormal Synostosis | Hearing Abnormalities | Vision Abnormalities

Surgical Cleft Repairs

Palatoplasty Cheiloplasty
Surgical repair of the palate Surgical repair of the lip
Cleft palate 003.jpg Cleft lip 007.jpg
Cleft Palate Cleft Lip and Palate

References

  1. P. Lancaster and E. Pedisich, Congenital Malformations Australia 1981-1992, ISSN 1321-835.
  2. Abeywardana S & Sullivan EA 2008. Congenital Anomalies in Australia 2002-2003. Birth anomalies series no. 3 Cat. no. PER 41. Sydney: AIHW National Perinatal Statistics Unit.
  3. Vipawee Panamonta, Suteera Pradubwong, Manat Panamonta, Bowornsilp Chowchuen Global Birth Prevalence of Orofacial Clefts: A Systematic Review. J Med Assoc Thai: 2015, 98 Suppl 7;S11-21 PubMed 26742364


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Cite this page: Hill, M.A. 2017 Embryology BGDB Face and Ear - Abnormalities. Retrieved November 24, 2017, from https://embryology.med.unsw.edu.au/embryology/index.php/BGDB_Face_and_Ear_-_Abnormalities

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© Dr Mark Hill 2017, UNSW Embryology ISBN: 978 0 7334 2609 4 - UNSW CRICOS Provider Code No. 00098G