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1,343 Possible Causes for Anteverted Nostril, Buccal Frenulae, Generalized Motor Seizure

  • Pallister W Syndrome

    nostrils small and apparently low-set ears simian crease clinodactyly congenital heart disease : may be seen in up to 25% of cases 4 congenital diaphragmatic hernia : may[radiopaedia.org] These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] The dysmorphic pattern is age-dependent and includes brachycephaly, temporal balding during the first years of life, a short nose with flat bridge and anteverted nostrils[molecularcytogenetics.biomedcentral.com]

  • Pallister-Hall Syndrome

    (anteverted nares) and a broad or flat nasal bridge; and/or an unusually long vertical groove in the middle of the upper lip (philtrum).[rarediseases.org] frenula microglossia cleft lip and palate teeth natal teeth cardiovascular anomalies ventricular septal defect patent ductus arteriosus proximal aortic coarctation respiratory[humpath.com] Some, but not all, patients had laryngeal cleft, abnormal lung lobulation, renal agenesis and/or renal dysplasia, short 4th metacarpals, nail dysplasia, multiple buccal frenula[ncbi.nlm.nih.gov]

    Missing: Generalized Motor Seizure
  • Mucopolysaccharidosis 7

    nostrils and a depressed nostril bridge in the mouth and oral areas: prominent alveolar processes and cleft palate in the thorax: usually pectus carinatum or exacavatum and[en.wikipedia.org] […] macrocephaly, frontal prominence, premature closure of sagittal lambdoid sutures, and J-shaped sella turcica in the eyes: corneal opacity and iris coloboma in the nose: anteverted[en.wikipedia.org]

    Missing: Buccal Frenulae
  • Early Infantile Epileptic Encephalopathy Type 2

    Other seizure types, including generalized tonic-clonic seizures, focal motor seizures and hemiconvulsions, are seen in 1/3 of cases.[orpha.net] About 30% of patients develops other seizure types, such as hemiconvulsions, motor seizures or generalized tonic-clonic seizures 42.[centogene.com] Symptoms Seizures typically begin with partial motor seizures, although myoclonic status may occur at onset.[intechopen.com]

    Missing: Buccal Frenulae
  • Aarskog-Scott Syndrome

    Some recent findings have included cystic changes in the brain and generalized seizures.[streetdirectory.com] The major facial manifestations of this syndrome include hypertelorism, broad forehead, broad nasal bridge, short nose with anteverted nostrils, long philtrum, widow's peak[ncbi.nlm.nih.gov] Aarskog-Scott syndrome: A syndrome of wide spaced eyes (ocular hypertelorism), front-facing (anteverted) nostrils, a broad upper lip, a malformed ("saddle-bag") scrotum, and[medicinenet.com]

    Missing: Buccal Frenulae
  • Mucopolysaccharidosis

    Clinical manifestations Upper airways Facial coarseness, hypertelorism, sunken nasal dorsum, anteverted nostrils, thickened lips, gingival hyperplasia [19] and dental distortions[hindawi.com]

    Missing: Buccal Frenulae
  • Smith Lemli Opitz Syndrome

    These include a short nose with flat nasal bridge, low-set and posteriorly angulated ears, cleft palate, cleft uvula, buccal frenula, bifid epiglottis, and cleft larynx.[ajnr.org] Facial anomalies, which include wide and flat nasal bridge, small sized nose with an upturned tip or pug nose, anteverted nostrils, undersized jaw (micrognathia), the ear[syndromespedia.com] nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia[indianpediatrics.net]

    Missing: Generalized Motor Seizure
  • Coffin-Lowry Syndrome

    Although the short duration of the repeated clinical episodes may have suggested repeated absence seizures, we underline that recurrent motor manifestations suggestive of[karger.com] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Brachydactyly Short fingers or toes 0001156 Broad finger Broad fingers Wide[rarediseases.info.nih.gov] Motor development is characterized by early generalized hypotonia and difficulties in ambulating and a clumsy gait later on.[alliedacademies.org]

    Missing: Buccal Frenulae
  • Alcohol Abuse

    Sex differences in patterns of drinking and rates of alcohol abuse and dependence begin to emerge during the transition from late puberty to young adulthood. Increases in pubertal hormones, including gonadal and stress hormones, are a prominent developmental feature of adolescence and could contribute to the[…][ncbi.nlm.nih.gov]

    Missing: Anteverted Nostril Buccal Frenulae
  • Wolf-Hirschhorn Syndrome

    nostrils Vertical ridging of central forehead when crying Cat-eye syndrome Type of abnormality: trisomy or tetrasomy of 22q (could be mosaic) Critical Region: 22q11 Coloboma[alpfmedical.info] […] behavior Attention-seeking behavior Miller-Dieker syndrome Type of abnormality: deletion Critical region: 17p13.3 Lissencephaly Mental retardation Microcephaly Short nose with anteverted[alpfmedical.info]

    Missing: Buccal Frenulae

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