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605 Possible Causes for Anteverted Nostril, Buccal Frenulae, Umbilical Plaque

  • Smith Lemli Opitz Syndrome

    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] 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] nostrils, microg-nathia, cleft palate, thickened dental ridge, simian crease, polydactyly, metatarsus abductus, syndactyly of second and third toes, and ambiguous genitalia[indianpediatrics.net]

  • Mucopolysaccharidosis 1H

    nostrils, full cheeks and enlarged lips), cardiomyopathy and valvular abnormalities, neurosensorial hearing loss, enlarged tonsils and adenoids, and nasal secretion.[orpha.net] […] thoracic-lumbar kyphosis, progressive coarsening of the facial features (including large head with bulging frontal bones, depressed nasal bridge with broad nasal tip and anteverted[orpha.net]

    Missing: Buccal Frenulae
  • Simpson Dysmorphia Syndrome

    […] nares / nostrils - Atrial septal defect / interauricular communication - Broad nose / nasal bridge - Broad / bifid thumb - Camptodactyly of fingers - Cardiac conduction defect[csbg.cnb.csic.es] frenula, microglossia, micrognathia, cleft palate, malformed ears TF Paired box homeotic gene-3 PAX3 2q35 193500 Waardenburg syndrome, type I 193500 AD wide nasal bridge,[widesmiles2.org] frenula -microglossia -micrognathia -cleft palate -malformed ears describe waardenburg syndrome type I -autosomal dominant -wide nasal bridge -short philtrum -cleft lip or[brainscape.com]

  • Costello Syndrome

    From Wikidata Jump to navigation Jump to search syndrome characterized by craniofacial dysmorphology, cardiac defects, mild mental retardation, and high birth weight followed by a failure to thrive and developmental delays FCS SYNDROME Faciocutaneoskeletal Syndrome CSTLO COSTELLO SYNDROME Myopathy, Congenital, With[…][wikidata.org]

    Missing: Buccal Frenulae
  • Marshall-Smith Syndrome

    Individuals may also have heart defects, an increased amount of body hair (hirsutism), and flat feet (pes planus). 0005616 Anteverted nares Nasal tip, upturned Upturned nasal[rarediseases.info.nih.gov] […] tip Upturned nose Upturned nostrils [ more ] 0000463 Bowing of the long bones Bowed long bones Bowing of long bones [ more ] 0006487 Failure to thrive Faltering weight Weight[rarediseases.info.nih.gov]

    Missing: Buccal Frenulae
  • Hypertrichotic Osteochondrodysplasia

    nostrils Long philtrum Wide mouth with full lips Macroglossia High or narrow palate Gingival hyperplasia Anterior open bite Hair Congenital generalized hirsutism Thick scalp[doi.org] […] nares Nasal tip, upturned Upturned nasal tip Upturned nose Upturned nostrils [ more ] 0000463 Broad hallux phalanx Broad bone of big toe Wide bone of big toe [ more ] 0010059[rarediseases.info.nih.gov] […] growth and short stature later in life Craniofacial dysmorphology Coarse facial appearance (can be confused with a storage disorder) Epicanthal folds Broad nasal bridge Anteverted[doi.org]

    Missing: Buccal Frenulae
  • Acrocallosal Syndrome

    nostrils and broad nasal bridge.[orpha.net] Other features have also been described; minor craniofacial anomalies (prominent forehead, hypertelorism, short nose with anteverted nostrils, large anterior fontanelle),[deepdyve.com] […] description In ACS, craniofacial anomalies include macrocephaly with protruding forehead and occiput, hypertelorism, large anterior fontanel, short mandible and nose with anteverted[orpha.net]

    Missing: Buccal Frenulae
  • 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: Umbilical Plaque
  • Baraitser-Winter Syndrome 1

    Her facial anomalies included high arched eyebrows, hypertelorism, downslanted palpebral fissures, a broad nasal bridge, a broad nasal tip and columella, anteverted nostrils[ncbi.nlm.nih.gov] Facial dysmorphism included high arched eyebrows, proptosis, hypertelorism, downslanted palpebral fissures, broad nasal bridge, broad nasal tip and columella, anteverted nostrils[ncbi.nlm.nih.gov] nostrils; macrostomia; very high and narrow palate; low-set, long, dysplastic ears; low posterior hairline and a webbed neck), frontal pachygyria, congenital pterygia at[ncbi.nlm.nih.gov]

    Missing: Buccal Frenulae
  • Trisomy 20p

    * Inguinal hernia * Genital hypoplasia * Undescended testes Causes - Chromosome 20- duplication 20p * Anteverted nostrils * Ataxia * Flat nasal bridge * Kyphoscoliosis *[checkorphan.org] His facial features included epicanthic folds and anteverted, flared nostrils as a baby.[jmg.bmj.com] nostrils * Large ears * Poorly formed ears * Cubitus valgus * Small fingers * Tapering fingers * Foot position defects * Vertebral defects * Kyphoscoliosis * Umbilical hernia[checkorphan.org]

    Missing: Buccal Frenulae

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