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1,202 Possible Causes for philtrum

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  • Char Syndrome

    The facial features include hypertelorism, strabismus, flat nasal bridge, short philtrum and a triangular mouth.[] Abstract In this case study, we investigate a child presenting with patent ductus arteriosus, short philtrum, duck-bill lips, strabismus, a flat nasal bridge, a broad forehead[] Char initially described affected neonates to have low-set ears, bilateral ptosis, a short philtrum and duckbill lips.[]

  • 3q13.31 Microdeletion Syndrome

    […] several common major characteristics including significant developmental delay, muscular hypotonia, a high arched palate, and recognisable facial features including a short philtrum[] OMIM : 57 The chromosome 3q13.31 deletion syndrome is characterized by marked developmental delay, characteristic facies with a short philtrum and protruding lips, and abnormal[] […] features of the emerging syndrome include development delay, hypotonia, high-arched palate, increased occipitofrontal circumference and distinctive facial features; short philtrum[]

  • Trichorhinophalangeal Syndrome

    Abstract We describe a 5-year-old girl with features resembling Trichorhinophalangeal syndrome, type I (sparse scalp hair, bushy eyebrows, bulbous nose, long philtrum, cone-shaped[] A bulbous, pear-shaped nose, elongated philtrum, sparse hair, cone-shaped epiphyses and mild growth retardation are found in both type I (TRPSI) and type II (TRPSII).[] The TRPS-I phenotype is characterized by fine, sparse, brittle hair in association with a bulbous pear-shaped nose, tented alae, a long extended philtrum, a thin upper lip[]

  • Femoral Hypoplasia

    Abstract The femoral hypoplasia-unusual facies syndrome comprises short femurs and a facies with short nose, elongated philtrum, thin upper lip and micrognathia.[] The most common features include hypoplasia of the femora and a characteristic facies with a short nose, long philtrum, thin upper lip and micrognathia.[] Abstract This syndrome comprises of bilateral femoral hypoplasia and unusual facies comprises of short nose with broad tip, elongated philtrum, thin upper lip, small lower[]

  • Fetal Disorder

    Philtrum: Vertical groove between the nose and upper lip; a flat or smooth philtrum can present in persons with fetal alcohol spectrum disorders.[] (Rank 4 or 5 on the Lip-Philtrum Guide), and (3) thin upper lip (Rank 4 or 5 on the Lip-Philtrum Guide).[] […] stature and a typical set of facial traits including microcephaly, microphthalmia, short palpebral fissures, epicanthal folds, a small or flat midface, a flat elongated philtrum[]

  • Sanjad-Sakati Syndrome

    […] hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large ears, long philtrum[] […] evident on the face, with the following features: Long narrow face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum[] […] growth hormone deficiency and the dysmorphism is: Long narrow face Deep-set, small eyes Beaked nose Large, floppy ears Small head (microcephaly) and Thin lips with a long philtrum[]

  • Fetal Alcohol Syndrome

    The lip and philtrum are measured with the lip philtrum guide.[] All four affected teenagers of this heteropaternal sibship demonstrated common features of FAS, including moderate mental retardation, maxillary hypoplasia, an elongated philtrum[] […] demonstrated severe intrauterine growth retardation with major limb reduction, chest hypoplasia and characteristic facial dysmorphism-short palpebral fissures, hypoplastic philtrum[]

  • Three M Syndrome

    The main features in our cases were low birth weight, short stature, malar hypoplasia, anteverted nostrils with a fleshy nasal tip, long philtrum, pointed full chin, short[] […] significant short stature with a typical adult height of 130cm. 3M syndrome is also associated with distinctive facial dysphorphism; triangular face, pointed chin, long philtrum[]

  • Freeman-Sheldon Syndrome

    […] mouth, mask-like face, high-arched palate, nasal speech, dysphagia, kyphosis and minimal scoliosis were noted, while Case 2 displayed blepharophimosis, mask-like face, long philtrum[] Abstract Children born with the rare congenital condition Freeman-Sheldon syndrome (FSS) have a characteristic facial appearance: microstomia, a long philtrum, 'H-shaped'[] […] skeletal malformations include camptodactyly with ulnar deviation, talipes equinovarus, while the facial characteristics include deep-sunken eyes with hypertelorism, long philtrum[]

  • Nicolaides-Baraitser Syndrome

    Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Mutism Inability to speak Muteness [ more ] 0002300 Short palm 0004279 Smooth philtrum[] Microcephaly, sparse hair, anteverted alae nasi, undefined philtrum, prominence of distal phalanges and interphalangeal joints, and short metacarpals are also typical of NCBRS[] […] at the joints, and no philtrum.[]

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