This version of macrostomia is less severe because it does not affect the facial muscles and is not associated with any soft tissue or bone deformities. A small cleft(s) extends from the mouth and can be repaired surgically.

Clefts in this variant are slightly more severe than the ones seen in simple macrostomia. It also does not have bone deformities, but it does include minor soft tissue deformities. The defining feature is muscle diastasis which is separation of the masseter. This phenotype can also be partially corrected with surgery.

The general presentation is of a skin-covered nodule, papule, or nodule of the skin surface, usually immediately anterior to the auricle. However, it may be anywhere within the periauricular tissues. Bilateral presentation can be seen.

The clinical presentation of HFM is quite variable. The severity may depend on the extent of the area with an insufficient blood supply "in utero", and the gestational age of the fetus at which this occurs. In some people, the only physical manifestation may be a small and underdeveloped external ear. In more severe cases, multiple parts of the face may be affected. Some people with HFM may have sensorineural hearing loss and decreased visual acuity or even blindness.

Goldenhar syndrome can be thought of as a particularly severe form of HFM, in which extracranial anomalies are present to some extent. Some of the internal organs (especially the heart, kidneys, and lungs) may be underdeveloped, or in some cases even absent altogether. The affected organs are typically on the same side as the affected facial features, but bilateral involvement occurs in approximately 10% of cases. Deformities of the vertebral column such as scoliosis may also be observed in Goldenhar syndrome.

While there is no universally accepted grading scale, the OMENS scale (standing for Orbital, Mandible, Ear, Nerves and Soft tissue) was developed to help describe the heterogeneous phenotype that makes up this sequence or syndrome.

Intellectual disability is not typically seen in people with HFM.

The several components or degrees of development range from an ear tag, preauricular appendage, preauricular tag, or accessory tragus, to supernumerary ears or polyotia. It is a relatively common congenital anomaly of the first branchial arch or second branchial arches. Other anomalies may be present concurrently, including cleft palate, cleft lip, or mandibular hypoplasia. There is a known association with Goldenhar syndrome (oculo-auriculo-vertebral syndrome) and with Wildervanck syndrome. There may also be an association with congenital cartilaginous rest of the neck.

Abnormal development of the skeletal portions of the second arch

1. Nondifferentiation of the stapes, with resultant absence of round and oval window.

2. Abnormal course of the facial nerve.

Skull base abnormalities

1. Hypoplasia of the petrous temporal bone.

2. Hypoplastic and sclerotic petrous apex may mimic labyrinthitis ossificans.

3. Platybasia.

4. Aberrant course of jugular veins.

Hemifacial microsomia (HFM) is a congenital disorder that affects the development of the lower half of the face, most commonly the ears, the mouth and the mandible. It usually occurs on one side of the face, but both sides are sometimes affected. If severe, it may result in difficulties in breathing due to obstruction of the trachea—sometimes even requiring a tracheotomy. With an incidence in the range of 1:3500 to 1:4500, it is the second most common birth defect of the face, after cleft lip and cleft palate. HFM shares many similarities with Treacher Collins syndrome.

Michel aplasia, also known as complete labyrinthine aplasia (CLA), is a congenital abnormality of the inner ear. It is characterized by the bilateral absence of differentiated inner ear structures and results in complete deafness (anacusis).

Michel aplasia should not be confused with michel dysplasia. It may affect one or both ears.

"Aplasia" is the medical term for body parts that are absent or do not develop properly. In Michel aplasia, the undeveloped (anaplastic) body part is the bony labyrinth of the inner ear. Other nearby structures may be underdeveloped as well.

Chief markers of Goldenhar syndrome are incomplete development of the ear, nose, soft palate, lip, and mandible on usually one side of the body. Additionally, some patients will have growing issues with internal organs, especially heart, kidneys, and lungs. Typically, the organ will either not be present on one side or will be underdeveloped. Note that while it is more usual for there to be problems on only one side, it has been known for defects to occur bilaterally (approximate incidence 10% of confirmed GS cases).

Other problems can include severe scoliosis (twisting of the vertebrae), limbal dermoids, and hearing loss (see hearing loss with craniofacial syndromes), and deafness or blindness in one or both ears/eyes, Granulosa cell tumors may be associated as well.

Two key features of AOS are aplasia cutis congenita with or without underlying bony defects and terminal transverse limb defects. Cutis aplasia congenita is defined as missing skin over any area of the body at birth; in AOS skin aplasia occurs at the vertex of the skull. The size of the lesion is variable and may range from solitary round hairless patches to complete exposure of the cranial contents. There are also varying degrees of terminal limb defects (for example, shortened digits) of the upper extremities, lower extremities, or both. Individuals with AOS may have mild growth deficiency, with height in the low-normal percentiles. The skin is frequently observed to have a mottled appearance (cutis marmorata telangiectatica congenita). Other congenital anomalies, including cardiovascular malformations, cleft lip and/or palate, abnormal renal system, and neurologic disorders manifesting as seizure disorders and developmental delay are sometimes observed. Variable defects in blood vessels have been described, including hypoplastic aortic arch, middle cerebral artery, pulmonary arteries. Other vascular abnormalities described in AOS include absent portal vein, portal sclerosis, arteriovenous malformations, abnormal umbilical veins, and dilated renal veins.

Goldenhar syndrome (also known as oculo-auriculo-vertebral (OAV) syndrome) is a rare congenital defect characterized by incomplete development of the ear, nose, soft palate, lip, and mandible. It is associated with anomalous development of the first branchial arch and second branchial arch. Common clinical manifestations include limbal dermoids, preauricular skin tags, and strabismus.

The term is sometimes used interchangeably with hemifacial microsomia, although this definition is usually reserved for cases without internal organ and vertebrae disruption.

It affects between 1/3,500 and 1/26,000 live births, with a male:female ratio of 3:2.

Most branchial cleft cysts present as a smooth, slowly enlarging lateral neck mass that may increase in size after an upper respiratory tract infection. The fistulas, when present, are asymptomatic, but may become infected.

Trismus is defined as difficulty in opening the mouth due to a muscle spasm resulting from a disturbance in the trigeminal nerve, however it can also refer to limited mouth opening of any cause. Another definition of trismus is simply a limitation of movement. Historically and commonly, the term "lock jaw" was sometimes used as a synonym for both trismus and tetanus.

Normal mouth-opening ranges from 35 to 45 mm. Males usually have slightly greater mouth opening than females. (40–60 mm, average of 35 mm). The Normal Lateral movement is 8-12mm, and normal protrusive movement is approximately 10mm. Some have distinguished mild trismus as 20–30 mm interincisal opening, moderate as 10–20 mm and severe as less than 10 mm.

Trismus is derived from the Irish word "trismos" meaning "a scream; a grinding, rasping or gnashing"

Orofacial myofunctional disorders (OMD) (sometimes called “oral myofunctional disorder", and “tongue thrust”) are muscle disorders of the face, mouth, lips, or jaw.

Recent studies on incidence and prevalence of tongue thrust behaviors are not available. However, according to the previous research, 38% of various populations have OMD. The incidence is as high as 81% in children exhibiting speech/articulation problems (Kellum, 1992).

OMD refers to abnormal resting posture of the orofacial musculature, atypical chewing, and swallowing patterns, dental malocclusions, blocked nasal airways, and speech problems. OMD are patterns involving oral and/orofacial musculature that interferes with normal growth, development, or function of structures, or calls attention to itself. OMD are found in both children and adults. OMD that are commonly seen in children include tongue thrust that is also known as swallowing with an anterior tongue posture. OMD also refers to factors such as nonnutritive sucking behaviors, such as thumb sucking, clenching, bruxing, etc. that led to abnormal development of dentition and oral cavity. OMD in adult and geriatric population are due to various neurological impairments, oral hygiene, altered functioning of muscles due to aging, systemic diseases, etc.

Tongue thrusting is a type of orofacial myofunctional disorder, which is defined as habitual resting or thrusting the tongue forward and/or sideways against or between the teeth while swallowing, chewing, resting, or speaking. Abnormal swallowing patterns push the upper teeth forward and away from the upper alveolar processes and cause open bites. In children, tongue thrusting is common due to immature oral behavior, narrow dental arch, prolonged upper respiratory tract infections, spaces between the teeth (diastema), muscle weakness, malocclusion, abnormal sucking habits, and open mouth posture due to structural abnormalities of genetic origin. Large tonsils and adenoids also contribute to tongue thrust swallowing.

From the dental perspective, teeth move in relation to the balance of the soft tissue; the normal relationship of teeth lies in occlusion; and any deviation from the normal occlusion can lead to dental distress. Tongue posture plays an important role in swallowing and dentofacial growth. In case of tongue thrust swallowing, the tip of the tongue can come against or between the dentition; the midpoint may be collapsed or extended unilaterally or bilaterally; or the posterior part of the hard palate. In these conditions, there are chances of abnormal dentofacial growth and other concerns regarding development of the craniofacial complex.

There are pertinent symptomatic questions that can be considered for the diagnosis of tongue thrust swallow. Some of these questions are geared toward tongue protrusion and an opening of lips when the client is in repose; habitual mouth breathing; digit sucking; existence of high and narrow palatal arch; ankyloglossia (tongue-tie); malocclusions, (Class II, III); weak chewing muscles (masseter); weak lip muscles (orbicularis oris); overdeveloped chin muscles (mentalis); muscular imbalance; abnormal dentition.

Tongue thrusting and speech problems may co-occur. Due to unconventional postures of the tongue and other articulators, interdental and frontal lisping are very common. The alveolar sounds /s/ and /z/ are produced more anteriorly thus leading to interdental fricative like sounds, /th/.

Plantar fibromatosis is most frequently present on the medial border of the sole, near the highest point of the arch. The lump is usually painless and the only pain experienced is when the nodule rubs on the shoe or floor. The overlying skin is freely movable, and contracture of the toes does not occur in the initial stages.

The typical appearance of plantar fibromatosis on magnetic resonance imaging (MRI) is a poorly defined, infiltrative mass in the aponeurosis next to the plantar muscles.

Only 25% of patients show symptoms on both feet (bilateral involvement). The disease may also infiltrate the dermis or, very rarely, the flexor tendon sheath

“Branchio” refers to the branchial arches, also known as the pharyngeal arches, of the affected individual. The branchial arches are structures in the developing embryo that give rise to certain tissues in the neck and facial area. In individuals affected by this condition, the branchial arches fail to develop properly. This leads to some of the physical conditions of this syndrome, which include abnormal patches of skin on the neck and face region and can be abnormally hairy, thin or red and with a high number of blood vessels. “Oculo” refers to the eyes. Individuals have vision impairment due to several malformations in the eyes such as small eyeballs, blockage in the tear ducts or lacking eyes completely. “Facial” refers to the face; those affected can have several abnormalities in that region. These abnormalities include a cleft lip, a cleft palate which is an opening in the roof of the mouth, widely spaced eyes (hypertelorism), sharp corners of the mouth that point upward, a broad nose that can include a flattened tip, along with several deformations of both the external and middle ear structures. This syndrome is restricted to the face, but it can also cause underdeveloped or malformed kidneys.

Common relevant features of acrocephalosyndactyly are a high-arched palate, pseudomandibular prognathism (appearing as mandibular prognathism), a narrow palate, and crowding of the teeth.

Adams–Oliver syndrome (AOS) is a rare congenital disorder characterized by defects of the scalp and cranium (cutis aplasia congenita), transverse defects of the limbs, and mottling of the skin.

During development of aortic arch, if the proximal portion of the right fourth arch disappears instead of distal portion, the right subclavian artery will arise as the last branch of aortic arch. It then courses behind the esophagus (or rarely in front of esophagus, or even in front of trachea) to supply blood to right arm. This causes pressure on esophagus and results in dysphagia. It can sometimes result in upper gastrointestinal tract bleeding.

Trismus, also called lockjaw, is reduced opening of the jaws (limited jaw range of motion). It may be caused by spasm of the muscles of mastication or a variety of other causes. Temporary trismus occurs much more frequently than permanent trismus. It is known to interfere with eating, speaking, and maintaining proper oral hygiene. This interference, specifically with the patient's ability to swallow properly, results in an increased risk of aspiration. In some instances, trismus presents with altered facial appearance. The condition may be distressing and painful for the patient. Examination and treatments requiring access to the oral cavity can be limited, or in some cases impossible, due to the nature of the condition itself.

Unilateral crossbite involves one side of the arch. The most common cause of unilateral crossbite is a narrow maxillary dental arch. This can happen due to habits such as digit sucking, prolonged use of pacifier or upper airway obstruction. Due to the discrepancy between the maxillary and mandibular arch, neuromuscular guidance of the mandible causes mandible to shift towards the side of the crossbite. This is also known as Functional mandibular shift. This shift can become structural if left untreated for a long time during growth, leading to skeletal asymmetries. Unilateral crossbites can present with following features in a child

- Lower midline deviation to the crossbite side

- Class 2 Subdivision relationships

- Temporomandibular disorders

A branchial cleft cyst is a cyst in the skin of the lateral part of the neck. It can but does not necessarily have an opening to the skin surface called a fistula. The cause is usually a developmental abnormality arising in the early prenatal period, typically failure of obliteration of the second branchial cleft, i.e. failure of fusion of the second and third branchial arches. Less commonly, the cysts can develop from the first, third, or fourth clefts, and their location and the location of associated fistulas differs accordingly.

Branchio-oculo-facial syndrome (BOFS) is a disease that arises from a mutation in the TFAP2A gene. It is a rare autosomal dominant disorder that starts to affect a child's development before birth. Symptoms of this condition include skin abnormalities on the neck, deformities of the ears and eyes, and other distinctive facial features such a cleft lip along with slow growth, mental retardation and premature graying of hair.

Dysphagia lusoria (or Bayford-Autenrieth dysphagia) is abnormal condition characterized by difficulty in swallowing caused by aberrant right subclavian artery. It was discovered by David Bayford in 1761 and first reported in a paper by the same in 1787.