Macrostomia: Causes & Reasons

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Possible Causes for Macrostomia

Simpson Dysmorphia Syndrome

The patient also exhibited macrostomia (Fig. 1), macroglossia, and hepatomegaly. [journals.lww.com]

Simpson-Golabi-Behmel syndrome is characterized by: polyhydramnios neonatal recurrent hypoglycemia 6 facial deformities, including cleft lip and palate 9, macrostomia, macroglossia [radiopaedia.org]

He shared similar dysmorphic features with his brother comprising coarse facial features, hypertelorism, broad nasal bridge, short nose, macrostomia, prominent jaw (fig 1) [jmg.bmj.com]

Treacher-Collins Syndrome

[…] downslanting palpebral fissures extending to the temples, a broad nasal base, anteverted nares, small, posteriorly rotated ears, a long, smooth philtrum, a thin upper lip, striking macrostomia [ncbi.nlm.nih.gov]

[…] outward and downward with notches or colobomas in the outer third of the lower lids, bony defects or hypoplasia of malar and zygomatic bones, hypoplasia of the mandible, macrostomia [medical-dictionary.thefreedictionary.com]

[…] characteristics are represented by down slanting palpebral fissures, coloboma of the eyelid, micrognathia, microtia and other deformity of the ears, hypoplastic zygomatic arches, and macrostomia [ncbi.nlm.nih.gov]

Goldenhar Syndrome

Fig. 8: Convergent strabismus, matted eye lashes, macrostomia, and pyoderma. [healio.com]

[…] preauricular appendages, preauricular fistulas, ear asymmetry, microtia, atresia of the external auditory canal), craniofacial deformities (cleft face, cleft lip, cleft palate, macrostomia [ncbi.nlm.nih.gov]

[…] ear anomalies Craniofacial defects: unilateral facial hypoplasia; prominent forehead; hypoplasia of the zygomatic arch; maxillary and mandibular hypoplasia and unilateral macrostomia [ajnr.org]

Baraitser-Winter Syndrome

Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. [ncbi.nlm.nih.gov]

Guion-Almeida ML, Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: [doi.org]

CAS Article Google Scholar 6 Guion-Almeida ML, Richieri-Costa A : Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and [nature.com]

Angelman Syndrome

Most patients of this age group show at least 8 of the major characteristics (bursts of laughter, happy disposition, hyperactive behaviour, microcephaly, brachycephaly, macrostomia [ncbi.nlm.nih.gov]

[…] with an ataxic gait if the patient is walking, paroxysm of inappropriate laughing, dysmorphic craniofacial features (brachycephaly, mid-facial hypoplasia, deep set eyes, macrostomia [pesquisa.bvsalud.org]

Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible. [ncbi.nlm.nih.gov]

Simpson-Golabi-Behmel Syndrome Type 2

The patient also exhibited macrostomia (Fig. 1), macroglossia, and hepatomegaly. [journals.lww.com]

Medical Term Other Names Description Wide mouth Macrostomia, Large mouth, Broad mouth, Large oral aperture [more] Distance between the oral commissures more than 2 SD above [rarediseases.oscar.ncsu.edu]

Macrocephaly Type Fryns

[…] diagnosis of Fryns syndrome include a coarse face, wide-spaced eyes with cloudy corneas, a wide and flat nasal bridge with anteverted nares, anomalous and low-set ears, macrostomia [ncbi.nlm.nih.gov]

Characteristic Features GPC3 GPC4 2 Simpson-Golabi-Behmel syndrome type 1 (SGBS1) XL Rare Overgrowth (pre- & postnatal), macrocephaly, dysmorphic features (coarse facies, macrostomia [ncbi.nlm.nih.gov]

[…] features in individuals with PIGN pathogenic variants have been described as coarse with wide-spaced eyes, a small nose, flat nasal bridge, anteverted nares, a long philtrum, macrostomia [ncbi.nlm.nih.gov]

Pallister-Killian Syndrome

[…] syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia [ncbi.nlm.nih.gov]

(tall, broad, prominent forehead; sparse eyebrows and lashes; small cornea and no reaction to visual stimuli; short nose with anteverted nares; long and smooth philtrum; macrostomia [mdpi.com]

[…] frontotemporal baldness; dysmorphic face (sparse eyebrows and lashes, relatively small cornea, “pointed pupil”, flat zygomatic area, normal nose, short and prominent philtrum, macrostomia [mdpi.com]

MOMO Syndrome

Tall stature, macrostomia, and delayed eruption of teeth. [accessanesthesiology.mhmedical.com]

Trisomy 20

[…] tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary [medical-dictionary.thefreedictionary.com]

[…] of the skin, dorsal kyphoscoliosis, and other skeletal defects. tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia [medical-dictionary.thefreedictionary.com]

[…] kyphoscoliosis, and other skeletal defects. tri·so·my 20 syn·drome ( trīsō-mē sindrōm ) Chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia [medical-dictionary.thefreedictionary.com]

Treacher-Collins Syndrome Type 3

[…] lid,narrowing of the external ears and malformation of the middle ear ossicles which may lead to deafness,hypoplasia of the mandible (macrognathia) and cleft palate and macrostomia [genecards.org]

It is characterized mainly by fishlike facies with receding chin, downward sloping palpebral fissures, colobomas of the eyelids, macrostomia, dysplastic ears, and other anomalies [icd10data.com]

Typically, the characteristics of a person with Treacher Collins syndrome may include: cleft palate small jawbone (micrognathia) disproportionately large mouth (macrostomia [betterhealth.vic.gov.au]

Cri Du Chat Syndrome

Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis. [ncbi.nlm.nih.gov]

[…] reduced muscle tone) certain facial characteristics: - rounded face - hypertelorism (widely spaced eyes) with downward slant to the eyes - low-set ears - broad nasal bridge - macrostomia [contact.org.uk]

Oculorenocerebellar Syndrome

Ablepharon macrostomia syndrome 0 *Abnormalities, Multiple *Eye Abnormalities *Macrostomia. [reference.md]

49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia [rgd.mcw.edu]

[…] duplication syndrome 8p23.1 duplication syndrome 8q12 microduplication syndrome Aagenaes syndrome Aarskog syndrome Abdominal aortic aneurysm Abetalipoproteinemia Ablepharon macrostomia [rarediseases.info.nih.gov]

Pitt-Hopkins Syndrome

Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 1993; 29 (2) 156-157 3 Van Balkom ID, Quartel S, Hennekam RC. [doi.org]

PubMed Google Scholar Singh HA: Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health. 1993, 29: 156-157. 10.1111/j.1440-1754.1993.tb00472.x. [ijponline.net]

Partial Trisomy 8q

High, prominent forehead; wide face in infancy; fleshy, everted lower lip; long and poorly defined philtrum with marked macrostomia and gingival hypertrophy; low nasal bridge [accessanesthesiology.mhmedical.com]

Turner Syndrome

Classification D ICD-10: Q18.3 ICD-9-CM: 744.5 DiseasesDB: 29611 v t e Congenital malformations and deformations of face and neck (Q18, 744.4–744.9) Face jaw: Otocephaly mouth: Macrostomia [en.wikipedia.org]

Spondyloepiphyseal Dysplasia Type Cantú

16 cases 93395 Coloboma of macula - brachydactyly type B 12 cases52994 Orofaciodigital syndrome type 4 16 cases 1471 Congenital atransferrinemia 12 cases2753 Ablepharon macrostomia [fliphtml5.com]

Decaudain-Vigouroux 9 cases 210571 Ehlers-Danlos syndrome, dermatosparaxis type 7 cases137871 Lenz-Majewski hyperostotic dwarfism 9 cases 1901 Episodic ataxia type 5 7 cases2658 Macrostomia [fliphtml5.com]

Carpenter-Waziri Syndrome

Retardation Syndromes Moderate to severe mental retardation, short stature, mild obesity, hypogonadism, low total finger ridge count, and distinctive narrow facies marked by macrostomia [doctor.am]

[…] distinctive face characterized by bitemporal narrowness, almond-shaped palpebral fissures, depressed nasal bridge, anteverted nares, short and inverted-V-shaped upper lip, and macrostomia [omim.org]

Naguib Syndrome

Brachycephaly, broad notched nasal tip, cleft lip/palate, and macrostomia. Polysyndactyly, camptodactyly, and hypoplasia of the distal phalanges of the hands. [accessanesthesiology.mhmedical.com]

Developmental delay/intellectual disability 12 (100%) 15 (100%) Digital anomalies: 10 (83%) 6 (40%) -of which short IV metatarsus 4 (33%) 0 Ear anomalies 9 (75%) 13 (87%) Macrostomia [ojrd.biomedcentral.com]

49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia [rgd.mcw.edu]

Faciocardiomelic Syndrome

49,XXXXX Syndrome 5-Nucleotidase Syndrome 7p2 Monosomy Syndrome Aagenaes syndrome Aarskog syndrome + Aase Smith Syndrome Abderhalden-Kaufmann-Lignac Syndrome ablepharon macrostomia [rgd.mcw.edu]

Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis-macroblepharon-macrostomia [se-atlas.de]

Piebald Trait - Neurologic Defects Syndrome

[…] del, TGFBR2+del, MLH3 Lysosomal glycogen storage disease without acid maltase deficiency, formerly LAMP2+del Krankheit Gen Macrocephaly/autism syndrome (MCEPHAS) PTEN+del Macrostomia [uniklinik-freiburg.de]

Basal cell nevus syndrome (BCNS) (Gorlin syndrome; Gorlin-Goltz syndrome) Holoprosencephaly-7 (HPE7) Medulloblastoma, somatic (MDB) PTCH2 Basal cell carcinoma, somatic (BCC) Macrostomia [uniklinik-freiburg.de]

Blepharophimosis-Intellectual Disability Syndrome Type Ohdo

Radial defect Robin sequence Chordoma Tonoki syndrome Short limb dwarf lethal Colavita Kozlowski type Primary pigmented nodular adrenocortical disease DPM2-CDG Ablepharon macrostomia [checkrare.com]

Mucopolysaccharidosis

Mucopolysaccharidoses (MPS) are lysosomal storage disorders caused by the deficiency of enzymes needed for the stepwise breakdown of glycosaminoglycans (also known as mucopolysaccharides). During the last decades the enzyme deficiencies underlying each disease – as well as the molecular defects causing them –[…] [news-medical.net]

Waldenstrom Macroglobulinemia

Referencias 1. Kapoor P, Paludo J, Vallumsetla N, Greipp P. Waldenström macroglobulinemia: What a hematologist needs to know. Blood Rev 2015; 29: 301-19. [ Links ] 2. Wang H, Chen Y, Li F, Delasalle K, Wang J, Alexanian R, et al. Temporal and geographic variations of Waldestrom macroglobulinemia incidence: a large[…] [scielo.cl]

Coffin-Lowry Syndrome

There is a wide variability in the expression of the features of the syndrome. Involvement of the head and neck can present as thickened calvarium, small sinuses paranasales, flat occiput, delayed suture closure with large anterior fontanelle, prominent supraorbital ridges with bushy brows, downwardly slanted[…] [accessanesthesiology.mhmedical.com]

Williams-Beuren Syndrome

Description Williams syndrome is a developmental disorder that affects many parts of the body. This condition is characterized by mild to moderate intellectual disability or learning problems, unique personality characteristics, distinctive facial features, and heart and blood vessel (cardiovascular) problems. People with[…] [medlineplus.gov]

BOD Syndrome

Title Other Names: Brachymorphism-onychodysplasia-dysphalangism syndrome; Brachymorphism onychodysplasia dysphalangism syndrome Categories: BOD syndrome is a genetic condition characterized by underdeveloped “pinky” toenails or fingernails, normal intellect to mild intellectual disability, distinct facial features, and[…] [rarediseases.info.nih.gov]

Monosomy 21q

To present the prenatal findings and molecular cytogenetic analyses of partial trisomy 12q and partial monosomy 21q, and a review of the literature. Amniocentesis was performed at 23 gestational weeks in a 33-year-old woman because of abnormal sonographic findings. Amniocentesis revealed a derivative chromosome 21,[…] [ncbi.nlm.nih.gov]

Chromosome 18p Deletion Syndrome

Case Reports. 2014 Jan-Mar;32(1):68-70. doi: 10.4103/0970-4388.127063. Affiliations PMID: 24531606 DOI: 10.4103/0970-4388.127063 Case Reports Deletion of short arm of chromosome 18, Del(18p) syndrome Prashant Babaji et al. J Indian Soc Pedod Prev Dent. 2014 Jan-Mar. Abstract Deletion of the short arm of chromosome 18[…] [pubmed.ncbi.nlm.nih.gov]

Amaurosis-Hypertrichosis Syndrome

A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis Hypertrichosis, atrophic skin, ectropion, and macrostomia (Barber-Say [documents.mx]

Barber Say syndrome 0 *Eyelid Diseases *Hirsutism *Hypertelorism *Hypertrichosis *Macrostomia *Skin Abnormalities. Midphalangeal hair 0 *Hypertrichosis. [reference.md]

Disability-Seizures-Macrocephaly-Obesity Syndrome KBG Syndrome Langer-Giedion Syndrome Macrocephaly-Spastic Paraplegia-Dysmorphism Syndrome Mandibulofacial Dysostosis With Macroblepharon And Macrostomia [familydiagnosis.com]