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132 Possible Causes for Short Nose, Smooth Philtrum

  • Acrofacial Dysostosis Type Catania

    nose Short palm Small hand Smooth philtrum Frequently present symptoms in 30-79% of the cases: Abnormal hair pattern Bilateral single transverse palmar creases Cryptorchidism[dovemed.com] nose Decreased length of nose Shortened nose [ more ] 0003196 Short palm 0004279 Short stature Decreased body height Small stature [ more ] 0004322 Small hand Disproportionately[rarediseases.info.nih.gov] philtrum Frequently present symptoms in 30-79% of the cases: Abnormal hair pattern Bilateral single transverse palmar creases Cryptorchidism Delayed skeletal maturation Feeding[dovemed.com]

  • Sener Syndrome

    Ocular anomalies and short nose with depression of the nasal bridge could also be observed. Syndactyly, as described by Apert, [6], [7] was also present.[jiaomr.in] philtrum Cardiovascular Vascular: patent ductus arteriosus Prenatal Manifestations Amniotic Fluid: polyhydramnios Skin Nails Hair Skin: eczema Head And Neck Ears: posteriorly[malacards.org] philtrum 0000319 Sporadic No previous family history 0003745 Umbilical hernia 0001537 Wide anterior fontanel Wider-than-typical soft spot of skull 0000260 Wide mouth Broad[rarediseases.info.nih.gov]

  • Fetal Alcohol Syndrome

    Facial Characteristics • Low nasal bridge • Short nose • Indistinct philtrum (groove between nose and upper lip) • Small head circumference • Small eye opening • Small midface[slideshare.net] ., short stature, as well as all three characteristic facial abnormalities-short palpebral fissure length, a thin upper lip, and a smooth philtrum.[ncbi.nlm.nih.gov] […] upper lip in the midline) Small eyes Flat midface Flattening of cheek bones Short nose Sunken nasal bridge Cardiac malformations or defects in the heart, such as ventricular[healthhype.com]

  • Teebi-Shaltout Syndrome

    nose * Depressed nasal bridge * Small hands * Broad hands * Mild webbed fingers * Shawl scrotum * Antimongoloid slant * Long palpebral fissures * Long philtrum * Fifth-finger[checkorphan.org] Eyes: hypertelorism ptosis telecanthus bilateral epicanthal folds microphthalmia (family a) Chest External Features: pectus excavatum pectus carinatum Head And Neck Face: smooth[malacards.org] nose Thin upper lip vermilion Polyhydramnios Abnormality of the dentition Camptodactyly of finger Delayed speech and language development Seizures Breast hypoplasia Nemaline[mendelian.co]

  • Cornelia De Lange Syndrome

    Clinical diagnosis is based on a characteristic facies – low frontal hair line, short nose, triangular nasal tip, crescent shaped mouth, upturned nose, and arched eyebrows[ncbi.nlm.nih.gov] The typical features of CdLS include thick or long eyebrows, a small nose, small stature, developmental delay, long or smooth philtrum, thin upper lip and downturned mouth.The[en.wikipedia.org] Some people will have a small number of features but don't have CdLS. [1] Key features Long and/or thick eyebrows Short nose Concave nasal ridge and/or upturned nasal tip[en.wikipedia.org]

  • Fetal Disorder

    These include small eyes, short or upturned nose, flat cheeks, and thin lips.[americanpregnancy.org] philtrum (the area between nose and upper lip), thin upper lip, small palpebral fissures (the horizontal eye openings) Growth deficit (lower than average height, weight or[healthychildren.org] Physical defects Physical defects may include: Distinctive facial features, including small eyes, an exceptionally thin upper lip, a short, upturned nose, and a smooth skin[mayoclinic.org]

  • Trisomy 17p

    nose and anteverted nares, prominent lateral nasal folds and round philtrum.[neuroscienceandgenetics.it] philtrum, high-arched palate, and a short broad neck.[ncbi.nlm.nih.gov] We report a 5-year-old boy with a small de novo marker chromosome derived from the proximal short arm of chromosome 17.[trisomydisorders.wordpress.com]

  • Acrocallosal Syndrome

    nose and mandible and preauricular skin tags, mixed hearing loss, laryngomalacia, and growth and severe motor and mental retardation.[ncbi.nlm.nih.gov] 0000322 Smooth philtrum 0000319 Thin vermilion border Decreased volume of lip Thin lips [ more ] 0000233 Wide nasal bridge Broad nasal bridge Broad nasal root Broadened nasal[rarediseases.info.nih.gov] Prominent forehead, broad nasal bridge, short nose and mandible, hypertelorism, epicanthic folds, large anterior fontanelle and tapered fingers, omphalocele and inguinal hernia[ncbi.nlm.nih.gov]

  • Isolated Congenital Hypoglossia / Aglossia

    Facial features include prominent brow, short nose, and hypertelorism, and ocular anomalies include myopia, iris hypoplasia, and/or retinal detachment ( Regenbogen and Coscas[mendelian.co] He had a prominent metopic suture, long and smooth philtrum, small mandible and severe micrognathia.[cags.org.ae] […] palpebral fissures, ankyloblepharon, hypoplastic nose, filiform bands between the jaws and facial clefts, oligosyndactyly, genital abnormalities, and additional ectodermal[mendelian.co]

  • Cerebro-Facio-Thoracic Dysplasia

    He also showed dysmorphic features:hypertelorism, broad short nose, synophrys, narrowforehead, large low-set ears, flat facies, short neck withlow hair line, flat occiput,[docslide.com.br] philtrum with a thin upper lip Cardiac lesions in 1/3 of cases: VSD is most common Hurst: congenital heart disease; choanal stenosis; short stature Autosomal recessive ASD[en.wikibooks.org] […] mouth, short neck, marked maxillary hypoplasia, a low hairline (especially posteriorly in the midline on the neck), brachycephaly, calcified clinoid ligements, and multiple[ncbi.nlm.nih.gov]

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