Macrostomia: Causes & Reasons

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Possible Causes for Macrostomia

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]

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]

SGBS type 2. [1] [2] People with SGBS typically have distinctive facial features, including a large distance between the eyes ( hypertelorism ), an unusually wide mouth ( macrostomia [rarediseases.info.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]

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]

[…] becomes more pronounced with age), prominent forehead, hypertelorism, upslanting palpebral fissures with epicanthal folds, small nose with upturned nares, high arched palate, macrostomia [molecularcytogenetics.biomedcentral.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]

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]

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]

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]

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]

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]

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]

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]

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]

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]

Mucopolysaccharidosis

Abstract Mucopolysaccharidosis Type II (Hunter syndrome) is a rare X-linked recessive storage disorder caused by deficiency of lysosomal enzyme iduronate-2-sulfatase, causing excess accumulation of glycosaminoglycans in the lysosomes resulting in cellular damage, organ failure and death. Severe subtype develops[…] [ncbi.nlm.nih.gov]

Waldenstrom Macroglobulinemia

Waldenström's macroglobulinemia (lymphoplasmacytic lymphoma) is a chronic lymphoproliferative disorder of indolent type that can manifest in life-threatening complications. The onset of WM is not specific for a typical clinical picture. In fact, in many patients, it is discovered through routine blood tests. Commonly[…] [symptoma.com]

Coffin-Lowry Syndrome

Two unrelated patients with Coffin-Lowry syndrome are described. The main characteristics of a typical face, thick hands with tapering fingers and a transverse hypothenar crease, general hypotonia with extensible joints made diagnosis possible before the age of 6 months. A persistent large anterior fontanel[…] [ncbi.nlm.nih.gov]

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]

Williams-Beuren Syndrome

Williams syndrome was originally described independently by Williams and Beuren in 1961. Williams syndrome causes medical and developmental problems. Williams syndrome occurs between 1 in 7,500 to 1 in 20,000 births. What is Williams Syndrome? Williams Syndrome (WS; also known as Williams-Beuren syndrome or WBS) is a rare[…] [web.archive.org]

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]

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]

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

Immunoglobulin (Ig) A deficiency has long been recognized in patients with chromosome 18 abnormalities. We present the case of a young girl in whom a chromosome 18p deletion syndrome (46,XX,del[18][p11.1]) was associated not only with IgA deficiency, but also with an inability to make antibody to the unconjugated[…] [ncbi.nlm.nih.gov]

Macrostomia - Preauricular Tags - External Ophthalmoplegia

Monosomy 7q2

Monosomy 18p

Chromosome 18, Monosomy 18p NORD gratefully acknowledges Shashikant Kulkarni, PhD, Director of CytoGenomics and Molecular Pathology, Director of Clinical & Molecular Cytogenetics, Department of Pathology, Washington University School of Medicine, for assistance in the preparation of this report. Synonyms of[…] [rarediseases.org]

Tetrasomy 21q

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