oral path
CONGENITAL ANOMALIES OF THE HEAD, FACE, AND ORAL CAVITY
A. MALFORMATION OF THE HEAD AND FACE
Cyclops
Malformation characterized by the fusion of 2 eyes into one.
Absence of the premaxilla; multiple processes grow together in the median line beneath the eye, forming a high upper lip that replaces the external nose.
Classified as a form of holoprosencephaly, a brain development abnormality primarily impacting the forebrain, which normally divides into left and right hemispheres.
Cyclopia Hypognathus
Characterized by a single eye, a small oral opening, and a lack of nasal processes.
Infant's brain hemispheres may not develop.
Associated conditions:
Trisomy 13 (Patau syndrome)
Trisomy 18 (Edward syndrome)
Risk Factors:
Maternal diabetes
Syphilis
Cytomegalovirus
Rubella virus
Toxoplasmosis
Herpes
Drugs during pregnancy (aspirin, alcohol, anticonvulsants, anti-cancer agents)
UV rays, light exposure, and trimester bleeding.
Ethmocephaly
A mild form of cyclopia presenting with 2 orbits and a rudimentary bulb present.
Absence of the nose with a proboscis-like structure resembling a nose.
Associated condition: Microphthalmia (abnormally small eyes).
Synotia
Occurs due to failure of the first branchial arch to divide into maxilla and mandible.
Results in a union of the mouth and nose and fusion of ears at the midline.
May lead to absence of the mandible and small oral fissure.
Archiencephaly/Arhinencephaly
Characterized by malformation of the anterior part of the brain and skull.
Associated with:
Ocular hypotelorism (eyes closer together than normal)
Premaxillary agenesis (absence of premaxilla).
The nose may appear trunk-like and rudimentary.
Considered an isolated non-syndromic central nervous system malformation.
Anencephaly
Results from non-closure of the cerebral portion of the neural tube, leading to the complete absence of the cranial vault above the orbital ridge.
Presents as a soft, red, purple formless mass lying exposed at the base of the skull, consisting largely of thin-walled vascular channels distended with blood.
Part of a spectrum of holoprosencephaly disorders.
Cebocephaly
Characterized by an infant with a single nostril and ocular hypotelorism, resembling a monkey's nose.
Iniencephaly
Malformation affecting the nape and brain where the head is extended, facing upward.
The scalp skin is continuous with the skin of the back.
Klipppel-Feil Syndrome
Basic defects consist of shortening of the neck due to fusion of cervical vertebrae.
Associated with cleft palate and has a low hairline with restricted movement of the upper spine.
Microcephaly
Condition where the cranial content measures less than 1200 cc, compared to the normal range of 1200 to 1750 cc.
Associated with feeble-mindedness and idiocy.
Risk Factors:
Zika virus (during the 1st trimester)
German measles (Rubella)
Chickenpox.
Macrocephaly
Condition characterized by an enlarged skull circumference due to a larger brain.
Hydrocephalus (H2)
Dilatation of brain cavities due to cerebrospinal fluid accumulation inside the ventricles.
Caused by the obstruction of the 4th ventricle resulting in a shrunken facial appearance surrounded by a dome-shaped cranium.
The cranium bones are very thin.
Transillumination differentiates hydrocephalus from macrocephaly.
Symptoms of Hydrocephalus:
Headache
Somnolence
Irritability
Idiocy
Macewen’s sign: A diagnostic sign used to detect hydrocephalus or brain abscess via percussion.
Hydraencephaly
Complete or almost complete absence of cerebral hemispheres, with the space typically filled with CSF.
At birth, the head appears of normal size.
Percussion of the head yields a tympanic sound (Macewen’s sign), and electroencephalograms reveal a complete absence of electrical activity.
Transillumination tests result in glow transmission through the pupil in a darkened room.
Oxycephaly
Characterized by a pointed head resulting from the premature closure of the transverse suture, forcing the skull to develop upward.
Acrocephaly
A skull deformity where the frontal bone bulges forward due to the premature fusion of sagittal sutures near the bregma, resulting in frontal bulging.
Bregma: A critical bony landmark on the midline where the coronal and sagittal suture converge.
Scaphocephaly
Present with a convex-shaped skull that has excessive length but diminished breadth due to the premature closure of sagittal and parieto-temporal sutures, inhibiting development in breadth.
Frontal and occipital bones are prominently developed.
Plagiocephaly
Characterized by a slanting skull where only half of the cranium is enlarged, resulting in an asymmetrical development due to the premature fusion of sutures.
Dolichocephaly
Condition characterized by a long, narrow skull without stenosis of the sagittal suture.
Brachycephaly
A round skull with a short anteroposterior diameter; in severe cases, the skull appears broad and shortened from front to back.
Clinical features include a flat face, widely set eyes, and shallow orbits.
Trigonocephaly (triangularity)
Characterized by a keel-shaped forehead with a wide biparietal diameter of the skull.
Frontal protuberance results from the fusion of the 2 halves of the frontal bone during fetal life, commonly associated with premaxillary agenesis and pseudo-cleft of the upper lip.
Kleeblattschadel Syndrome
Characterized by a cloverleaf-shaped skull (Trefoil skull) due to a combination of craniosynostosis and hydrocephalus.
Meningocele
A defect in the skull causing the dura mater to herniate through an opening.
If the defect is extensive, brain tissue may also protrude along with the meninges, leading to meningoencephalocele.
Aprosopus
A condition characterized by such extreme facial defect that the face appears featureless.
Related to human craniosynostosis.
Dignathus
A congenital defect where the fetus presents with two lower jaws.
Hemifacial Hypertrophy and Atrophy
Hemifacial Hypertrophy: Unilateral enlargement of the facial and oral structures.
Hemifacial Atrophy: Progressive atrophy of soft tissues on one side of the face.
B. MALFORMATION OF THE HEAD
Cephalothoracopagus
A fetus with the head and thorax joined together.
Prosopothoracopagus
Twins joined at the face, neck, and chest.
Prosoposternodymia
A double fetus joined at the face and sternum.
Diprosopus
A fetus exhibiting two faces located on the back of the head.
Dicephalus
Characterized by two completely separated heads extending from one body.
C. CONGENITAL ANOMALIES OF THE JAWS
Agnathia
Complete absence of the maxilla, mandible, or both.
Maxillary type: Failure of maxillary processes to develop or absence of the premaxilla.
Mandibular type: Due to absence of the mandibular arch, sometimes observed in cyclopia.
Specific sub-conditions include:
Agenesis of Ascending Ramus
Results in a small mandible and absence of chin.
Hemiagnathia
Congenital absence of half of the mandible, which may be partial or complete.
Agenesis of Condyle
Absence of the embryonic accessory cartilage from which the condyle develops, leading to marked micrognathia.
Agenesis of Mental Protuberance
Result of disturbance in the embryonic cartilaginous skeleton that contributes to the development of symphysis menti.
Micrognathia
Retarded development of the maxillary or mandibular jaw.
Maxillary type: Related to mouth breathing.
Mandibular type: May result from ankylosis of the condyle to the glenoid fossa or agenesis of the condyle.
Macrognathia
Characterized by an abnormally large jaw size.
If both jaws are large, associated with Leontiasis Ossea.
Associated conditions include:
Paget’s disease
Fibrous dysplasia
Hyperparathyroidism
Renal osteodystrophy.
Can present as unilateral micrognathia (reduced jaw size) or unilateral ankylosis (either overgrowth or underdevelopment on one side).
D. CONGENITAL ANOMALIES OF THE MOUTH
Astomia
Characterized by a complete union of the upper and lower lip.
Microstomia
Typically acquired; may be associated with operative procedures or stenosis of the pharynx.
Macrostomia
Results from the complete fusion of the maxillary and mandibular processes during embryonic development, leading to an abnormally large oral opening.
Supernumerary Mouth and/or Jaws
The fetus possesses an extra mouth, typically smaller and ending blindly; some cases include additional lips, a tongue, and jaw.
Epignathus (Oral Teratoma)
A teratoma that arises in the region of Rathke's pouch and projects into the pharynx or oral cavity, protruding from the mouth.
E. CONGENITAL ANOMALIES OF THE TONGUE
Aglossia
Complete absence of the tongue.
Ankyloglossia
A condition resulting in a restricted range of motion of the tongue.
Macroglossia
Abnormally large tongue.
Microglossia
Abnormally small tongue.
Lobulated Tongue
Also known as a cleft tongue or bifid tongue.
Fissured Tongue
Characterized by a surface with fissures or grooves.
Median Rhomboid Glossitis
A condition that presents as a smooth, rhomboid-shaped patch on the midline of the dorsal surface of the tongue.
Supernumerary Tongue
Tongue-like structures that project from the tonsillar pillar area.
Abnormal Tongue Movements
Various forms of abnormal movements, including:
Trefoil Tongue: Anterior portion of the tongue is deformed into a clover leaf pattern.
Tongue Curling: Ability to curl up the lateral border of the tongue.
Tongue Up Folding: Extending the tongue beyond the lips and folding the lip back onto the tongue without teeth involvement.
Tongue Rolling: Rolling the tongue from side to side.
Ability to place the tip of the tongue behind the palate.
Ability to touch the tip of the nose with the tip of the tongue.
F. CONGENITAL ANOMALIES OF THE ORAL MUCOSA
Fordyce’s Disease
Characterized by discrete yellowish spots appearing on the mucosa of the lips, cheeks, and palate, corresponding to the openings of sebaceous glands, first described by Fordyce.
Fissural Anomalies of the Cheek
Presence of grooves due to the absence of union between maxillary and mandibular parts.
Congenital Pits and Fistulas of the Lips
Observed in both upper and lower lips, leading to mucus secretion and referred to as fistulas.
Double Lip
A fold of mucosa on the upper lip giving the impression of a double lip, perhaps due to sucking or drawing it between the incisors.
Abnormal Labial Frenum
Hypertrophy present in the labial frenum, characterized by thickening of the fibrous strand extending to the alveolar crest where it crosses the palatal side, forming a split between the two incisors.
G. CLEFT OF THE FACE
a. Clefts on the outer surface of the face:
Median Nasal Cleft
A cleft that separates the median nasal process from the lateral nasal processes.
Labial Cleft (Lagoschisi)
Cleft of the lip, sometimes referred to as a “lip-like hare.”
2a. Labial cleft of upper lip: Resulting from the failure of margins of globular and maxillary processes to unite.
2b. True median cleft of upper lips: Due to an unsuccessful union of the 2 globular processes.
2c. Cleft in the lower lip: Caused by the failure of the mandibular processes to unite in the median line.
Lateral Nasal Cleft
Cleft occurring laterally in the nasal region.
Lateral Clefts of the Upper Lip
May present as unilateral or bilateral clefts in the upper lip.
Oblique Facial Cleft (Meloschisis)
A cleft extending from the upper lip to the lower eyelid, resulting from the failure of median nasal, lateral nasal, and maxillary processes to unite.
Transverse Facial Cleft (Cheek Cleft)
A cleft that runs from the corner of the mouth to the masseter muscle, or in severe cases, to the tragus of the ear involving embryonal tissues separating the maxillary and mandibular processes.
b. Clefts of Internal Parts of the Face
Median Palatal Cleft
Condition where the hard palate fails due to lack of union between the two palatine processes and the nasal septum.
1a. Hard Palate: Due to failure of the union of 2 palatine processes and nasal septum.
1b. Soft Palate: Caused by the failure of the union of 2 palatine processes.
Lateral Cleft of Maxilla (Gnathoschisis)
An alveolar process condition that may present as unilateral or bilateral.
Median Cleft of Mandible
Condition resulting from the failure of the 2 mandibular processes to unite.