Congenital Facial Anomaly: Causes & Reasons

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Possible Causes for Congenital Facial Anomaly

CHARGE Syndrome

Kabuki syndrome is a rare genetic disorder characterized by intellectual disability and multiple congenital anomalies, including short stature, peculiar facial appearance, [ncbi.nlm.nih.gov]

Other commonly associated congenital anomalies are facial nerve palsy, cleft lip/palate, and tracheo-oesophageal fistula. [jmg.bmj.com]

The patient had multi-organ anomalies: right facial palsy, a left short, wide ear with a small lobe, congenital heart defects, such as ASD and PDA, left renal atresia, seizure [ncbi.nlm.nih.gov]

Goldenhar Syndrome

[…] genito-urinary anomalies 10 congenital cardiac anomalies 2 Antenatal ultrasound Individual features are non-specific. [radiopaedia.org]

[…] genito-urinary anomalies 10 congenital cardiac anomalies 2 Antenatal ultrasound Individual features are non specific. [radiopaedia.org]

A wide variety of other anomalies are often found including left lip and palate, mandibular hypoplasia, vertebral anomalies, facial nerve paralysis, congenital heart defects [disorders.eyes.arizona.edu]

Cleft Palate

Updated on January 13, 2020 A cleft palate is a common congenital facial anomaly treated by plastic surgeons. [verywellhealth.com]

The child was referred for multiple congenital anomalies: bilateral aplasia of the radius and thumb, left kidney agenesis, cardiac malformation cleft palate, bilateral cryptorchidism [ncbi.nlm.nih.gov]

Facial abnormalities number as the most frequent congenital anomalies (1:1000 newborns) and are often encountered in combined forms, occurring with other anomalies. [embryology.ch]

Hemangioma

They occur at a younger age and grow up to ten times larger They are consequently more unsightly Other congenital anomalies may be associated with facial segmental haemangiomas [dermnetnz.org]

Likewise, segmental infantile haemangiomas involving the perineum may be associated with pelvic congenital anomalies, the PELVIS syndrome (perineal hemangioma with any of [dermnetnz.org]

Other Than Infantile Hemangioma Safety of Oral Propranolol for Infantile Hemangioma Congenital Hemangiomas NICH & RICH Facial Hemangiomas Occurrence of Facial Hemangiomas [birthmark.org]

Cleidocranial Dysplasia

Cleidocranial dysplasia (CCD) is a rare congenital disorder characterized by skeletal and dental anomalies. [ncbi.nlm.nih.gov]

This clinical report describes the prosthodontic approach to treating a CCD patient who presented with decreased facial height and relative mandibular protrusion due to maxillary [ncbi.nlm.nih.gov]

Frontometaphyseal Dysplasia

anomalies, congenital contractures, severe ID May have shortened life span HSPG2 Dyssegmental dysplasia, Silverman-Handmaker type; Schwartz-Jampel syndrome type 1 AR Dyssegmental [arupconsult.com]

OPD1 is an X-linked dominant multiple congenital anomalies disease mainly characterized by a generalized skeletal dysplasia, mild mental retardation, hearing loss, cleft palate [abcam.com]

Atelosteogenesis types I and III – severe rhizomelia, dislocations Atelosteogenesis type I – perinatal lethality GNPAT Rhizomelic chondrodysplasia punctata type 2 AR Rhizomelia, facial [arupconsult.com]

Seckel Syndrome

[…] dysmorphisms including micrognathia, recessed forehead, a large beaked nose, and dental anomalies. [thieme-connect.com]

Seckel syndrome has been associated with congenital brain malformations and intracranial aneurysms. We describe a patient with “Seckel syndrome” and stroke. [thieme-connect.com]

[…] online) Abstract Seckel syndrome is a rare autosomal recessive disorder, characterized by intrauterine and postnatal growth retardation, microcephaly, mental retardation, and facial [thieme-connect.com]

Bruxism

Methylphenidate (MPH) is a stimulant that is commonly used in the treatment of attention-deficit/hyperactivity disorder in children and adults. Several reports are available regarding the relationship of MPH use and sleep bruxism. We report the case of a 9-year-old boy who presented with severe awake bruxism[…] [ncbi.nlm.nih.gov]

Osteomyelitis

Osteomyelitis Other names Bone infection Osteomyelitis of the 1st toe Specialty Infectious disease, orthopedics Symptoms Pain in a specific bone, overlying redness, fever, weakness[1] Complications Amputation[2] Usual onset Young or old[1] Duration Short or long term[2] Causes Bacterial, fungal[2] Risk factors[…] [en.wikipedia.org]

Tongue Carcinoma

著者中島逸男 NAKAJIMA Itsuo 獨協医科大学耳鼻咽喉科気管食道科 Department of Otorhinolaryngology and Bronchoesophagology, Dokkyo University School of Medicine 谷垣内由之 TANIGAITO Yoshiyuki 獨協医科大学耳鼻咽喉科気管食道科 Department of Otorhinolaryngology and Bronchoesophagology, Dokkyo University School of Medicine 吉田博一 YOSHIDA Hirokazu[…] [ci.nii.ac.jp]

Jaw Fracture

Jaw fractures are one of the most common maxillofacial injuries encountered in medical practice, with pain, numbness, bleeding, restricted mobility and in rare cases dyspnea presenting as main symptoms. Panoramic radiography and helical computed tomography are the imaging techniques used to make the diagnosis.[…] [symptoma.com]

Dental Caries

Dental caries (or tooth decay) is defined as the decay or breakdown of teeth as direct consequence of the activity of bacteria lying all over the teeth surface. The first sign of caries is the appearance of a chalky white spot called “white spot lesion”, which eventually turns into a cavity exposing the deeper[…] [symptoma.com]

Sjögren Syndrome

Sjogren's syndrome is a systemic autoimmune disease characterized by lymphocytic infiltrates in exocrine organs. It is named after Swedish ophthalmologist Henrik Sjögren. The early symptoms of Sjogren's syndrome can be easily overlooked. The main clinical presentation in adults is xerophthalmia and xerostomia. In[…] [symptoma.com]

Dental Abscess

Emerg Radiol. 2008 Nov;15(6):367-74. doi: 10.1007/s10140-008-0758-6. Epub 2008 Aug 23. Author information 1 Department of Oral & Maxillofacial Surgery, Massachusetts General Hospital, Boston, MA 02114, USA. cresnick@partners.org Abstract In the imaging evaluation of Emergency Department patients presenting with facial[…] [ncbi.nlm.nih.gov]

Laceration

Tongue lacerations provide a challenge for emergency physicians, especially in the case of pediatric patients. Traditional wound closure typically involves local anesthesia or procedural sedation in children, which is time consuming and often anxiety provoking for providers, patients, and parents. 2-Octyl cyanoacrylate[…] [ncbi.nlm.nih.gov]

Gaucher Disease

Summary Epidemiology The prevalence is approximately 1/100,000. The annual incidence of GD in the general population is about 1/60,000, but it can reach up to 1/1,000 in Ashkenazi Jewish populations. Clinical description The clinical manifestations of this disease are highly variable. GD type 1 (90% of cases) is the chronic[…] [orpha.net]

Fibrous Dysplasia

The concept of "fibro-osseous lesions" of bone has evolved over the last several years and now includes two mayor entities: the fibrous dysplasia (FD) and the cement-ossifying fibroma (COF). Fibrous dysplasia is considered to be a developmental, tumor-like (hamartomatous), fibro-osseous disease of unknown[…] [ncbi.nlm.nih.gov]

Ameloblastoma

Ameloblastoma (from the early English word amel, meaning enamel + the Greek word blastos, meaning germ) is a rare, benign or cancerous tumor of odontogenic epithelium (ameloblasts, or outside portion, of the teeth during development) much more commonly appearing in the lower jaw than the upper jaw. It was[…] [en.wikipedia.org]

Gaucher Disease Type 2

Collodion membrane is most closely associated with forms of autosomal recessive congenital ichthyosis, but the differential diagnosis includes many other less common etiologies. Herein we present a case of Gaucher disease (GD) type 2 in a neonate presenting with collodion membrane in addition to blueberry muffin[…] [ncbi.nlm.nih.gov]

Temporomandibular Joint Dislocation

A 33-year-old man fell from a height and was referred to our hospital. Physical examination showed a swelling in the left preauricular region without laceration. No thrill or bruit was detected at this time. A face x-ray and a computed tomographic scan showed a left temporomandibular joint (TMJ) dislocation, Le Fort[…] [ncbi.nlm.nih.gov]

Paget Disease of the Bone

Osteitis deformans, also known as Paget's disease, is a condition frequently observed in elderly patients, despite the fact that it's prevalence has decreased over the last 20 years. With unclear etiology, this pathological entity is characterized by abnormal behavior of osteoclasts and osteoblasts, leading to[…] [symptoma.com]

Achondroplasia

Achondroplasia is a common type of dwarfism. Achondroplasia is present at birth and is seen as disproportionately short-limbs, and specific facial features due to abnormal bone growth. Infants with achondroplasia suffer a high rate of apnea and sudden death in the neonatal period. The principle features of[…] [symptoma.com]

Felty Syndrome

PURPOSE OF REVIEW: Patients with chronic large granular lymphocyte (LGL) leukemia often have rheumatoid arthritis (RA), neutropenia and splenomegaly, thereby resembling the manifestations observed in patients with Felty's syndrome, which is a rare complication of RA characterized by neutropenia and splenomegaly.[…] [ncbi.nlm.nih.gov]

Mumps

Mumps is an acute, self-limited, systemic viral illness characterized by the swelling of one or more of the salivary glands, typically the parotid glands. The illness is caused by the RNA virus, Rubulavirus. Rubulavirus is within the genus Paramyxovirus and is a member of the family Paramyxoviridae. This virus contains a[…] [emedicine.com]

McCune-Albright Syndrome

Malignant transformation of fibrous dysplasia is very rare and has not been previously described in patients with McCune-Albright syndrome in the absence of radiation treatment during gestation. Here, we report a 38-year-old pregnant woman with McCune-Albright syndrome and acromegaly accompanied by[…] [ncbi.nlm.nih.gov]

Acromegaly - Cutis verticis gyrata - Corneal Leukoma Syndrome

Clinical: Face wide; hypodontia; underdeveloped maxilla ; teeth deformities; myotonic dystrophy; facial anomalies: maxillary hypoplasia, protrusion of the lower lip, broad [dentisty.org]

Congenital disc anomalies, such as hypoplasia or the coloboma dysplasia variety38 (Fig. 19-10), associated with hypertelorism or other mid-facial malformation, are evidence [medtextfree.wordpress.com]

Congenital, developmental and degenerative disorders of the iris and ciliary body. In: Albert DM, Jakobiec FA, eds. Principles and Practice of Ophthalmology, vol. I. [dentisty.org]

Anisakiasis

Anisakiasis is a rare parasitic disease in humans who eat raw marine fish and squid. It is caused by Anisakis nematodes when their larvae invade the gastrointestinal mucous membrane to cause inflammatory symptoms. Upper gastrointestinal endoscopy along with radiological investigations like ultrasonography and[…] [symptoma.com]

Jaw Sprain

Actinomycetales Infection

Alveolar Periostitis

Change of an alveolar shoot – violation of integrity of an alveolar part of a bone. Patients complain of the expressed pain syndrome in the injured jaw, strengthening of morbidity at a smykaniye of teeth, swallowing. During survey reveal grazes, wounds in okolorotovy area. A mucous membrane of an oral cavity[…] [medicine-for-you.com]