[…] 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]
mouth, and small receding chin; underdeveloped, malformed, or prominent ears; and small tufts of hair in front of the ears.
[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]
The patient also exhibited macrostomia (Fig. 1), macroglossia, and hepatomegaly.
[journals.lww.com]
mouth ( macrostomia ) with a large tongue ( macroglossia ), and abnormalities of the roof of the mouth (palate). [3] Other, findings include extra nipples, various birth
[rarediseases.info.nih.gov]
broad great toes, overlapping second and third toes pCME3(Belgium) / / Pre- and postnatal overgrowth, macrocephaly, macrostomia, mild mental retardation OG004(The Netherlands
[doi.org]
It usually consists of pre auricular appendages, fistulae, hypoplastic or absent pinnae, anti-mongoloid slant, coloboma of the iris and lids, epibulbar dermoids, macrostomia
[indianpediatrics.net]
Macrostomia is often present. Abnormal development of the ears is another characteristic of Goldenhar syndrome.
[pediatriconcall.com]
[…] clinical examination baby had absent left pinna which was replaced by periauricular skin tags and appendages, atresia of the left external auditory canal, epibulbar dermoid, macrostomia
[indianpediatrics.net]
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]
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]
Moreover, she had facial dysmorphic features such as microbrachycephaly, mid-facial hypoplasia, macrostomia and prominent mandible.
[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]
A syndrome of mental retardation, wide mouth and intermittent overbreathing. Aust Paediatr J 1978; 14 (3) 182-184 2 Singh HA.
[doi.org]
Figure 2 note facial dysmorphisms: mycrocephalia, wide mouth with Cupid bow shaped upper lip, narrow biparietal diameter, prognathism.
[ijponline.net]
Abstract Pitt-Hopkins syndrome is a rarely reported syndrome of so-far-unknown etiology characterized by mental retardation, wide mouth, and intermittent hyperventilation.
[ncbi.nlm.nih.gov]
[…] 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]
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]
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]
mouth, and a small jaw Short distal phalanges of the fingers and toes.
[ncbi.nlm.nih.gov]
mouth, and a small jaw); short distal phalanges of the fingers and toes (the nails may also be small); pulmonary hypoplasia; and associated anomalies (polyhydramnios, cloudy
[ncbi.nlm.nih.gov]
[…] appearance (coarse facies, wide-set eyes, a wide and depressed nasal bridge with a broad nasal tip, long philtrum, low-set and anomalous ears, tented vermilion of the upper lip, wide
[ncbi.nlm.nih.gov]
Two other genes also are known to cause Treacher Collins syndrome: POLR1C and POLR1D 3. dental and mandibular retrognathia micrognathia macrostomia hypoplasia or aplasia of
[radiopaedia.org]
[…] 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]
[…] 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]
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]
Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis.
[ncbi.nlm.nih.gov]
(unusually wide mouth) - micrognathia (a small jaw) - short neck partial webbing or fusion of fingers or toes a single crease in the palm of the hands slow or incomplete
[contact.org.uk]
(unusually wide mouth) down-turned angles of the mouth micrognathia (a small jaw) short neck partial webbing or fusion of fingers or toes a single transverse crease over
[contact.org.uk]
Tall stature, macrostomia, and delayed eruption of teeth.
[accessanesthesiology.mhmedical.com]
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]
Most individuals with this condition present with a short and broad head (brachycephaly); a wide mouth with downturned corners; a prominent, relatively bulbous nose; large
[rarediseases.org]
Clinical features included psychomotor retardation, hypotonia, microcephaly, hypertelorism, downward slanting palpebral fissures, macrostomia, cleft palate, micrognathia,
[typeset.io]
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]
Sings and symptoms of Williams syndrome include distinct facial features (broad forehead, short nose with a broad tip, full cheeks, wide mouth with full lips, and dental problems
[medicinenet.com]
Young children with Williams syndrome have distinctive facial features including a broad forehead, a short nose with a broad tip, full cheeks, and a wide mouth with full lips
[medicinenet.com]
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]
mouth Broad mouth Large mouth [ more ] 0000154 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased
[rarediseases.info.nih.gov]
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]
mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum.
[ncbi.nlm.nih.gov]
The typical facial features consist of a prominent forehead, hypertelorism, a flat nasal bridge, downward sloping palpebral fissures, and a wide mouth with full lips.
[ncbi.nlm.nih.gov]
mouth with full lips skeletal anomalies growth retardation short stature pectus deformity spinal kyphosis and/or scoliosis Genetics It is caused by mutations in the RPS6KA3
[radiopaedia.org]
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]
mouth and broad nose, and mild intellectual disability.
[ebi.ac.uk]
mouth, thick eyebrows, long eyelashes, accommodative esotropia, inguinal and umbilical hernia, large premium atrial septal defect and cleft mitral valve, hirsutism, and mild
[bio2rdf.org]
[…] rare malformation syndrome that is characterized by short stature, hypoplastic fifth digits with tiny dysplastic nails, facial dysmorphism with coarse features including a wide
[ebi.ac.uk]
[…] retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round face * Small lower jaw * Wide
[checkorphan.org]
The main clinical manifestations are mental retardation, growth retardation, craniofacial dysmorphism including round face, dysplastic ears, wide mouth and dental anomalies
[omim.org]
mouth * Down-turned corners of mouth * Large protruding ears * High frequency of dental caries * Small hands * Small feet * Sunken chest * Brachycephaly * Broad face * Drooping
[checkorphan.org]
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]
Decreased length of neck 0000470 Short palm 0004279 Short philtrum 0000322 Small hand Disproportionately small hands 0200055 Synophrys Monobrow Unibrow [ more ] 0000664 Wide
[rarediseases.info.nih.gov]
mouth Broad mouth Large mouth [ more ] 0000154 30%-79% of people have these symptoms Aggressive behavior Aggressive behaviour Aggression Aggressiveness [ more ] 0000718 Blepharophimosis
[rarediseases.info.nih.gov]
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]
mouth Broad mouth Large mouth [ more ] 0000154 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased
[rarediseases.info.nih.gov]
Affected infants may also have small, low-set, abnormally folded ears; a wide mouth and thick lips; incomplete closure (clefting) or unusually high arching of the roof of
[rarediseases.org]
[…] nasal bridge Prominent bridge of nose Prominent nasal root Protruding bridge of nose Protruding nasal bridge [ more ] 0000426 Short neck Decreased length of neck 0000470 Wide
[rarediseases.info.nih.gov]
[…] 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]
Despite low IQ, he honors them in kind descriptive terms: having wide mouths, upturned noses and a true adoration of music.
[andrew.korobov.com]
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]
mouth, "carp-shaped"; flat or wide nose; large, deformed, lower-than-normal ears; ocular hypertelorism, drooping of the upper eyelid (ptosis), crossed eyes; Abnormally small
[vinmec.com]
Dysmorphology[edit] Common facial features include a flat and broad nasal bridge; epicanthic folds; wide mouth; short philtrum; everted lower lip; small and slightly receding
[en.wikipedia.org]
[…] triển trí tuệ ở mức độ trung bình The degree of craniofacial abnormalities varies from case to case including: abnormally small head (microcephaly); distinctive round face; wide
[vinmec.com]
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]
Definition: Systemic lysosomal storage disease caused by a deficiency of alpha-L-iduronidase ( IDURONIDASE ) and characterized by progressive physical deterioration with urinary excretion of DERMATAN SULFATE and HEPARAN SULFATE. There are three recognized phenotypes representing a spectrum of clinical severity[…]
[hon.ch]
