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 cranial malformations are the most apparent effects of acrocephalosyndactyly. Craniosynostosis occurs, in which the cranial sutures close too soon, though the child's brain is still growing and expanding. Brachycephaly is the common pattern of growth, where the coronal sutures close prematurely, preventing the skull from expanding frontward or backward, and causing the brain to expand the skull to the sides and upwards. This results in another common characteristic, a high, prominent forehead with a flat back of the skull. Due to the premature closing of the coronal sutures, increased cranial pressure can develop, leading to mental deficiency. A flat or concave face may develop as a result of deficient growth in the mid-facial bones, leading to a conditir prognathism. Other features of acrocephalosyndactyly may include shallow bony orbits and broadly spaced eyes. Low-set ears are also a typical characteristic of branchial arch syndromes.

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

"Cleidocranial dysostosis" is a general skeletal condition named for the collarbone (cleido-) and cranium deformities which people with it often have. Common features include:

- Partly or completely missing collarbones.

- A soft spot or larger soft area in the top of the head where the fontanelle failed to close.

- Bones and joints are underdeveloped.

- The permanent teeth include supernumerary teeth.

- Permanent teeth not erupting

- Bossing (bulging) of the forehead.

- Hypertelorism

"Fibrous dysplasia" causes bone thinning and growths or lesions in one or more bones of the human body.

These lesions are tumor-like growths that consist of replacement of the medullary bone with fibrous tissue, causing the expansion and weakening of the areas of bone involved. Especially when involving the skull or facial bones, the lesions can cause externally visible deformities. The skull is often, but not necessarily, affected, and any other bone(s) can be involved.

Craniofacial abnormalities are congenital musculoskeletal disorders which primarily affect the cranium and facial bones.

They are associated with the development of the pharyngeal arches. Approximately, 5% of the UK or USA population present with dentofacial deformities requiring Orthognathic surgery, jaw surgery, and Orthodontics, brace therapy, as a part of their definitive treatment.

Children with amyoplasia often suffer from internally rotated shoulders, extended elbows, ulnar flexed wrists. The type of displacement of the hips and knees is more variable, and they often have club feet. Most children have symmetrical limb involvement.

About 10% of children with amyoplasia have evidence of vascular compromise including Intestinal atresia, abdominal wall defects, and gastroschisis.

This is a very rare situation, in which the extra digit is on the ring, middle or index finger. Of these fingers, the index finger is most often affected, whereas the ring finger is rarely affected.

This type of polydactyly can be associated with syndactyly, cleft hand and several syndromes.

Polysyndactyly presents various degrees of syndactyly affecting fingers three and four.

Long face syndrome, also referred to as skeletal open bite, is a relatively common condition experienced by orthodontic patients which caused excessive vertical facial development. Its causes may be either genetic or environmental. Long face syndrome is “a common dentofacial abnormality.” Its diagnosis, symptomology and treatments are complex and controversial. Indeed, even its existence as a "syndrome" is disputed.

Classification is performed by using x-ray imaging to see the bone structures.

Prenatal and neonatal diagnosis of boomerang dysplasia includes several prominent features found in other osteochondrodysplasias, though the "boomerang" malformation seen in the long bones is the delineating factor.

Featured symptoms of boomerang dysplasia include: dwarfism (a lethal type of infantile dwarfism caused by systemic bone deformities), underossification (lack of bone formation) in the limbs, spine and ilium (pelvis); proliferation of multinucleated giant-cell chondrocytes (cells that produce cartilage and play a role in skeletal development - chondrocytes of this type are rarely found in osteochondrodysplasias), brachydactyly (shortened fingers) and (undersized, shortened bones).

The characteristic "boomerang" malformation presents intermittently among random absences of long bones throughout the skeleton, in affected individuals. For example, one individual may have an absent radius and fibula, with the "boomerang" formation found in both ulnas and tibias. Another patient may present "boomerang" femora, and an absent tibia.

It is the most common form of arthrogryposis multiplex congenita (AMC), where multiple joint contractures are present at birth. Arthrogryposis is derived from the Greek word meaning "with crooking of joints." It occurs in about one out of every 3,000 live births. There are more than 150 types of AMC. Amyoplasia accounts for 40% of AMC cases.

One dental textbook defines it as: “Dollicofacial, there is excess of lower facial height usually associated with lower occlusal and mandibular plane angles.” This is often associated “with vertical maxillary excess and mandibular hypoplasia.” Luc P. M. Tourne, a Fellow in the Department of TMJ and Craniofacial Pain at the University of Minnesota School of Dentistry, noted: "There is a clinically recognizable facial morphology, the long face syndrome, which has been incompletely described in the literature," However, her study of 31 adults with this syndrome, which included "analysis of esthetics, skeletal morphology, and occlusion" confirmed "this basic dentofacial deformity" has associations " with excessive vertical growth of the maxilla." She reported that closed bite and dental open are two pf the syndrome's variants.

The treatment for young patients troubled by long face syndrome is to halt and control descent of the lower jaw and to prevent the eruption of posterior teeth. In severe cases of deformity, a mixture of orthodontics and orthognathic surgery may be the only effective solution. The long term (more than 6 years) effectiveness of surgical treatments for long face syndrome has been subject to study.

"In the American literature, the terms long-face syndrome and short-face syndrome are often used." To be sure, there are reported "long and the short face anomalies" and open bite cases. However, in the opinion of Hugo Obwegeser, there is no medical justification for naming theme as a "syndrome" the signs and symptoms do not meet the definitional threshold.

There is controversy concerning the use of the descriptor "long-face syndrome." While increased anterior "total and lower face height" in many ages, combined with vertical maxillary excess in adults has been observed, the causes are controversial. Specifically, there is disagreement about possible potential environmental influences on genetic components.

Anecdotally, it was said to be a genetic condition, which could only be corrected with “massive amounts” of debilitating, frequent and long dental and facial reconstructive surgery.

For children, there is a concern that mouth breathing can contribute to the development of long face syndrome. A recent study finds that it is a growing problem which should be treated as "It won't just go away." In addition to mouth breathing, it may be associated with sleep apnea.

Because of Long face syndrome's sometime association with pediatric obstructive sleep apnea (OSA) and allergic reactions, it is essential that treating physicians differentiate the conditions and the treatments; treating one may not cure the other. Multilevel coblation surgery is sometimes used to correct moderate to severe OSA, and Long Face Syndrome can be a rare factor in considering surgery.

Congenital limb deformities are congenital musculoskeletal disorders which primarily affect the upper and lower limbs.

An example is polydactyly.

While identifying the causes of tongue thrust, it is important to remember that the resting posture of the tongue, jaw, and lips are crucial to normal development of mouth and its structures. If tongue rests against the upper front teeth, the teeth may protrude forward, and adverse tongue pressure can restrict the development of the oral cavity. The tongue lies low in the mouth or oral cavity and is typically forwarded between upper and lower teeth. If tongue thrust behavior is not corrected, it may affect the normal dental development. The teeth may be pushed around in different directions during the growth of permanent teeth.

Boomerang dysplasia is a lethal form of osteochondrodysplasia known for a characteristic congenital feature in which bones of the arms and legs are malformed into the shape of a boomerang. Death usually occurs in early infancy due to complications arising from overwhelming systemic bone malformations.

Osteochondrodysplasias are skeletal disorders that cause malformations of both bone and cartilage.

Common signs of Say–Meyer syndrome are trigonocephaly as well as head and neck symptoms. The head and neck symptoms come in the form of craniosynostosis affecting the metopic suture (the dense connective tissue structure that divides the two halves of the skull in children which usually fuse together by the age of six). Symptoms of Say–Meyer syndrome other than developmental delay and short stature include

- Intellectual disability.

- Low-set ears/posteriorly rotated ears

- Intellectual deficit as well as learning disability

- Intrauterine growth retardation (poor growth of a baby while it is in the mother's womb)

- Posterior fontanel

- Premature synostosis of the lambdoid suture (the fusion of the bones to the joint is premature)

- Narrow forehead

- Trigonocephaly (a frontal bone anomaly that is characterized by a premature fusion of the bones which gives the forehead a triangular shape)

- Hypotelorism or hypertelorism (reduced or increased width between the eyes)

- Craniosynostosis (when one or more seam-like junctions between two bones fuses by turning into bone. This changes the growth pattern of the skull)

- Low birth weight and height

The affected patients sometimes show a highly arched palate, clinodactyly (a defect in which toes or fingers are positioned abnormally) and ventricular septal defect (a heart defect that allows blood to pass directly from left to the right ventricle which is caused by an opening in the septum). Overall, Say–Meyer syndrome impairs growth, motor function, and mental state.

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/.

Clinically and radiologically the disease is characterized by severe shortening of long bones (limb's both proximal and median segments are affected), aplasia or severe hypoplasia of ulna and fibula, thickened and curved radius and tibia. These anomalies can cause deformities of the hands and feet. Hypoplasia of the mandible can also be present.

Franceschetti–Klein syndrome (also known as "Mandibulofacial dysostosis") is a syndrome that includes palpebral antimongoloid fissures, hypoplasia of the facial bones, macrostomia, vaulted palate, malformations of both the external and internal ear, buccal-auricular fistula, abnormal development of the neck with stretching of the cheeks, accessory facial fissures, and skeletal deformities.

It is sometimes equated with Treacher Collins syndrome.

Hajdu–Cheney syndrome causes many issues with an individual’s connective tissues. Some general characteristics of an individual with Hajdu–Cheney syndrome include bone flexibility and deformities, short stature, delayed acquisition of speech and motor skills, dolichocephalic skull, Wormian bone, small maxilla, hypoplastic frontal sinuses, basilar impression, joint laxity, bulbous finger tips, and severe osteoporosis. Wormian bone occurs when extra bones appear between cranial sutures. Fetuses with Hajdu–Cheney syndrome often will not be seen to unclench their hands on obstetrical ultrasound. They may also have low-set ears and their eyes may be farther apart than on a usual child, called hypertelorism. Children's heads can have some deformities in their shape and size (plagiocephaly). Early tooth loss and bone deformities, such as serpentine tibiae and fibulae, are also common in those affected.

The skeletal structures of individuals who have this disorder may have pronounced deformities. As reported by several medical doctors, the following features are commonly found in people who suffer from nail–patella syndrome:

Bones and joints

- Patellar involvement is present in approximately 90% of patients; however, patellar aplasia occurs in only 20%.

- In instances in which the patellae are smaller or luxated, the knees may be unstable.

- The elbows may have limited motion (e.g., limited pronation, supination, extension).

- Subluxation of the radial head may occur.

- Arthrodysplasia of the elbows is reported in approximately 90% of patients.

- General hyperextension of the joints can be present.

- Exostoses arising from the posterior aspect of the iliac bones ("iliac horns") are present in as many as 80% of patients; this finding is considered pathognomonic for the syndrome.

- Other reported bone changes include scoliosis, scapular hypoplasia, and the presence of cervical ribs.

Kidney issues may arise such as proteinuria and nephritis. Proteinuria is usually the first sign of renal involvement and either rapidly or years after suffering from asymptomatic proteinuria, renal failure occurs in around 5% of NPS patients. Hypothyroidism, irritable bowel syndrome, attention deficit hyperactivity disorder (ADHD), and thin tooth enamel are associated with NPS, but whether these are related or simply coincidences are unclear.

Monostotic fibrous dysplasia (or monostotic osteitis fibrosa) is a form of fibrous dysplasia where only one bone is involved. It comprises a majority of the cases of fibrous dysplasia.

A rare bone disorder characterized by benign bone growths which can cause very painful swellings and bone deformities and makes bone prone to fractures.

Parastremmatic dwarfism is a rare bone disease that features severe dwarfism, thoracic kyphosis (a type of scoliosis that affects the upper back), a distortion and twisting of the limbs, contractures of the large joints, malformations of the vertebrae and pelvis, and incontinence. The disease was first reported in 1970 by Leonard Langer and associates; they used the term "parastremmatic" from the Greek "parastremma", or "distorted limbs", to describe it. On X-rays, the disease is distinguished by a "flocky" or lace-like appearance to the bones. The disease is congenital, which means it is apparent at birth. It is caused by a mutation in the "TRPV4" gene, located on chromosome 12 in humans. The disease is inherited in an autosomal dominant manner.