Microstomia: Causes & Reasons

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Possible Causes for Microstomia

Schwartz-Jampel Syndrome

The main clinical features of this syndrome include generalized myotonic myopathy, skeletal dysplasia, blepharophimosis, microstomia, contracture of joints and short stature [ncbi.nlm.nih.gov]

[…] is an autosomal recessive trait characterized by mask-like face, narrow palpebral fissures (due to blepharophimosis, blepharospasm, and abnormal orbital configuration), microstomia [ncbi.nlm.nih.gov]

The combination of skeletal and muscular abnormalities may result in oro-dental manifestations such as atypical facies, with micrognathia, microstomia, pursed lips, crossbite [ncbi.nlm.nih.gov]

Systemic Scleroderma

These findings suggest that regular application of the proposed exercise program may be useful in the management of microstomia in SSD patients. [ncbi.nlm.nih.gov]

In cases of microstomia due to scleroderma, increased levels of orbicularis oris muscle tension is observed 1,7. [prime-journal.com]

Abstract Scleroderma is a disorder involving oral and facial tissues, with skin hardening, thin lips, deep wrinkles, xerostomia, tongue rigidity, and microstomia. [ncbi.nlm.nih.gov]

Trisomy 18

Note microphthalmia, micrognathia/retrognathia, microstomia, low set/malformed ears, short sternum, and abnormal clenched fingers. [web.archive.org]

It is characterized growth retardation, microcephaly, microphthalmia, ocular hypertelorism, ptosis, microstomia, distinctively clenched fingers and other congenital malformations [symptoma.com]

Note the microphthalmia, micrognathia/retrognathia, microstomia, low-set/malformed ears, short sternum, and abnormally clenched fingers in an infant with trisomy 18 (Edwards [emedicine.medscape.com]

Velocardiofacial Syndrome

The main manifestations of our patient were feeding difficulties, respiratory infections, short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia [ncbi.nlm.nih.gov]

DiGeorge Syndrome

The second case involved heart disease, microstomia, round and rotated ears and branchial cyst. Total T-lymphocytes were 38% and total T4-lymphocytes 27%. [ncbi.nlm.nih.gov]

Microstomia was found in 64.3% (9/14) of the patients, and 57.2% (8/14) had palate defects, micrognathia, and short stature. [scielo.br]

Trisomy 21

Gene. 2018 Jan 30;641:180-185. doi: 10.1016/j.gene.2017.10.044. Epub 2017 Oct 18. Author information 1 Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow 226014, India. 2 Department of Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Lucknow[…] [ncbi.nlm.nih.gov]

Freeman-Sheldon Syndrome

In this report, we describe a case of microstomia associated with club feet and ulnar deviation of the hands (Freeman-Sheldon syndrome) and the surgical technique for correction [ncbi.nlm.nih.gov]

Microstomia is a result of diffuse fibrosis within the orbicularis oris muscle. [journals.lww.com]

Evaluate the airway for difficult tracheal intubation (microstomia). Use of fiberoptic laryngoscope may be required. [accessanesthesiology.mhmedical.com]

Fetal Alcohol Syndrome

Fetal alcohol syndrome is a group of defects that occur in a fetus due to high levels of alcohol consumption during pregnancy. The main organ affected in fetal alcohol syndrome is the developing brain which can result in permanent sequalae in the form of mental, psychological and behavioral disturbances. There are[…] [symptoma.com]

Hypomandibular Faciocranial Dysostosis

A severe microstomia and micrognathia were detected by ultrasound at 31 weeks of gestation. [ncbi.nlm.nih.gov]

[…] is a cranial malformation characterized by facial dysmorphism (proptosis, frontal bossing, midface and zygomatic arches hypoplasia, short nose with anteverted nostrils, microstomia [malacards.org]

The diagnosis was made at birth on the association of severe retrognathia, microstomia, severe hypoglossia with glossoptosis, persistent buccopharyngeal membrane, median cleft [ncbi.nlm.nih.gov]

Epidermolysis Bullosa Simplex Type Cockayne-Touraine

Extensive intraoral erosions are common, with scarring, microstomia and ankyloglossia. [kissesforkatie.org]

[…] disease", [4] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia [ipfs.io]

[…] disease", [12] this variant results from mutations in the gene encoding type VII collagen, COL7A1, characterized by debilitating oral lesions that produce pain, scarring, and microstomia [en.wikipedia.org]

Pretibial Dystrophic Epidermolysis Bullosa

• Hair gowth on scalp and body impared• Scarring digits undergo progressive contractures• Scarring Alopecia• Pseudosyndactyly• Oral lesions – Ankyloglossia, microstomia. [slideshare.net]

Hallermann-Streiff Syndrome

In the patients with Hallermann-Streiff Syndrome, presence of mandibular hypoplasia and microstomia results in difficult intubation. [ncbi.nlm.nih.gov]

The nose appeared thin, sharp and hooked; the prominence of the chin was absent in the lateral view; a marked microstomia was evident as well. [ncbi.nlm.nih.gov]

From the features of mandibular hypoplasia and microstomia, difficulty in intubation was anticipated. [jpgmonline.com]

Distal Arthrogryposis Type 2B3

Microstomia is a result of diffuse fibrosis within the orbicularis oris muscle. [journals.lww.com]

Precautions before anesthesia Evaluate the airway for difficult tracheal intubation (microstomia). [accesspediatrics.mhmedical.com]

The clinical spectrum includes cranio-facial: long philtrum mouth puckering microstomia H-shaped chin dimple orbital features hypotelorism 8: drooping of the upper eyelids [radiopaedia.org]

Maroteaux-Stanescu-Cousin Syndrome

It is associated with characteristic dysmorphic features including a flat round face, prominent eyes, flat nasal bridge, midface hypoplasia, short nose, microstomia, high-arched [karger.com]

She presented with short limbs and dysmorphic facies, including a round flat face, prominent eyes with blue sclera, depressed nasal bridge, low-set ears, long philtrum, microstomia [karger.com]

[…] bow legs, and left knee showing genu recurvatum. c Face showing prominent eyes with blue sclera, small low-set cupped ears with overfolded ear helix, flat nasal bridge, microstomia [karger.com]

Die Smulders Vles Fryns Syndrome

Other facial characteristics are hypertelorism, microstomia with thin lips and flat philtrum, and an underdeveloped maxilla. [accesspediatrics.mhmedical.com]

[…] congenital anomalies/dysmorphic syndrome characterized by facial dysmorphism (brachycephaly, long, narrow, triangular face, prominent forehead, hypertelorism, flat philtrum, microstomia [orpha.net]

[…] also known as Arachnodactyly-intellectual disability-dysmorphism syndrome, is characterized by moderate intellectual deficit, brachycephaly, typical facies (thin lips and microstomia [dovemed.com]

Fine-Lubinsky Syndrome

In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay. [houstonmethodist-staging.elsevierpure.com]

Abstract In 1983, Fine and Lubinsky reported a single patient with craniofacial anomalies, hearing loss, cataracts, microstomia, CNS anomalies, and developmental delay. [pubmed.ncbi.nlm.nih.gov]

Fetal Diagnosis and Therapy Brachycephaly, Deafness, Cataract, Microstomia and Mental Retardation Syndrome Complicated by Pierre-Robin Anomaly and Polyhydramnios Schoner K.a [karger.com]

Congenital Symmetric Circumferential Skin Creases

[…] intellectual disability, short stature, cleft palate, and facial dysmorphism (including epicanthal folds, microphthalmia, broad nasal bridge, low-set, posteriorly rotated ears, and microstomia [orpha.net]

Bowing of The Long Bones

The prenatal detection in the second trimester of pregnancy of a fetus with craniosynostosis, wide metopic suture, and wormian bone associated with bowing of the long bones, unilateral short femur, and focal fibula deficiency is reported. These ultrasonographic findings when not supported by a diagnostic molecular[…] [ncbi.nlm.nih.gov]

Diaphragmatic Agenesis - Radial Aplasia - Omphalocele

QUIRURGICO CON TECNICAS DE RECONSTRUCCION 5 2000 LABIO LEPORINO BILATERAL 5 2000 LABIO LEPORINO CON AFECTACION OSEA, UNI O BILATERAL 5 2000 MACROSTOMIA 5 2000 MICROSTOMIA [1library.co]

QUIRURGICO CON TECNICAS DE RECONSTRUCCION HD 5 2000 LABIO LEPORINO BILATERAL HD 5 2000 LABIO LEPORINO CON AFECTACION OSEA, UNI O BILATERAL HD 5 2000 MACROSTOMIA HD 5 2000 MICROSTOMIA [1library.co]

Krauss Herman Holmes Syndrome

Malformative syndrome of the skeleton characterized by hypoplasia of carpal bones, microstomia, and micrognathia. Carpal Deformity with Micrognathia and Microstomia. [accessanesthesiology.mhmedical.com]

Synonym Carpal Deformity Micrognathia Microstomia Syndrome. Incidence Two cases have been reported from the same family, ie, a mother and her son. [accessanesthesiology.mhmedical.com]

Carpal deformity - micrognathia - microstomia: A very rare syndrome characterized by wrist bone defects, a small jaw and a small mouth. [checkorphan.org]

Congenital Genu Varum

Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. [ncbi.nlm.nih.gov]

Otocephalus

Abstract Otocephaly is a rare and lethal congenital malformation characterized by the presence of agnathia, microstomia, aglossia and synotia. [pubmed.ncbi.nlm.nih.gov]

Meier-Gorlin Syndrome

Other clinical features include microstomia, microcephaly, hypoplasia of the maxillary, and micrognathia. [accessanesthesiology.mhmedical.com]

Additional features can include microstomia, micrognathia, full lips, and a narrow nose with a high nasal bridge. [cags.org.ae]

Additional features can include a small mouth (microstomia), an underdeveloped lower jaw (micrognathia), full lips, and a narrow nose with a high nasal bridge. [encyclopedia.pub]

Generalized Dominant Dystrophic Epidermolysis bullosa

Keywords: Vesiculobullous lesions, dystrophic epidermolysis bullosa, oligodontia, microstomia, ankyloglossia How to cite this article: Sharma S, Bedi S. [idoj.in]

Extracutaneous 4 manifestations include: dystrophy or absence of nails, sparse head hair or alopecia, excessive dental caries, microstomia, mouth ulcers, lingual tip fixation [revistanefrologia.com]

Teeth are normal in this form. [2] In the present case, repeated blistering and ulceration which healed with scarring, lead to microstomia. [contempclindent.org]

Auriculocondylar Syndrome 3

Other frequently described features include prominent cheeks, cupped and posteriorly rotated ears, preauricular tags, and microstomia. [malacards.org]

Additional findings may include prominent cheeks, microstomia, and glossoptosis. read more [ctgt.net]

[…] craniofacial disorder involving first and second pharyngeal arch derivatives and includes the key features of micrognathia, temporomandibular joint and condyle anomalies, microstomia [malacards.org]

Aglossia

He had long narrow face, tapering chin, low set ears, and microstomia. [ncbi.nlm.nih.gov]

He was of medium height with a long narrow face, pointy tapering chin, saddle nose, broad nasal alae, low set ears, fused eyebrows, thin lips, and microstomia. [ncbi.nlm.nih.gov]

[…] spectrum of manifestations into five types, is widely accepted [Table 2].[6] Table 2 Halls classification of oromandibular limb hypogenesis syndrome[6] AC associated with microstomia [ncbi.nlm.nih.gov]

Desbuquois Dysplasia Type 2

It is associated with characteristic dysmorphic features, including a flat round face, midface hypoplasia, short nose, microstomia, and microretrognathia, often resulting [nature.com]

It is associated with characteristic dysmorphic features including a flat round face, prominent eyes, flat nasal bridge, midface hypoplasia, short nose, microstomia, high-arched [karger.com]

The faces were round and flat with short midfaces, very short, flat and broad noses with anteverted nares, microstomia, and microretrognathia, associated with a Pierre Robin [nature.com]

Mandibulofacial Dysostosis Syndrome Bauru Type

Auriculo-condylar syndrome (ACS), an autosomal dominant disorder of first and second pharyngeal arches, is characterized by malformed ears (‘question mark ears’), prominent cheeks, microstomia [nature.com]

[…] characterised by all or most of the following: hypoplastic or agenetic zygomatic arches, maxillary narrowing or overprojection, small mandible, broad or protruded nose, microstomia [aimerpute.com]

In addition to malformed ears, the major features of these patients were prominent cheeks, round facial appearance, micrognathia, microstomia, malocclusion, and hearing loss [nature.com]

Fox-Fordyce Disease

[…] mouth Actinomycosis Angioedema Basal cell carcinoma Cutaneous sinus of dental origin Cystic hygroma Gnathophyma Ludwig's angina Macrostomia Melkersson–Rosenthal syndrome Microstomia [en.wikipedia.org]

Seckel-Like Syndrome Type Buebel

Note the different grades of microtia and the microstomia with full lips at young age. [nature.com]

Facial features All individuals with MGS (both molecularly and clinically diagnosed) had a recognizable facial appearance with microtia (44/45; 98%), microstomia (27/39; 69% [nature.com]