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119 Possible Causes for Short Philtrum, Widely Spaced Nipples

  • Goldberg-Shprintzen Syndrome

    At 2 years, she manifested the described dysmorphism, progressive microcephaly, mildly downward slanting palpebral fissures, a flat occiput, short philtrum, and large ears[jmg.bmj.com] We also noted maxillary hypoplasia, hypodontia, high-arched palate, short neck, small hands, brachydactyly, clinodactyly of the fifth fingers, fetal finger pads and flatfoot[doi.org] nipples.[jmg.bmj.com]

  • Deletion of the Long Arm of Chromosome 18

    Dysmorphology [ edit ] Common facial features include a flat and broad nasal bridge; epicanthic folds ; wide mouth; short philtrum ; everted lower lip; small and slightly[en.wikipedia.org] Additional physical abnormalities have also been reported in association with the disorder, such as widely spaced nipples; deficiency of a particular antibody (i.e., immunoglobulin[rarediseases.org] The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae.[ojrd.biomedcentral.com]

  • Acrocallosal Syndrome

    […] describes on a 1-year-old girl with macrocephaly, bulging forehead, ocular hypertelorism, antimongoloid palpebral slant, convergent strabismus, atrophy of optic papillae, short[ncbi.nlm.nih.gov] In addition to the classic facial deformities aforementioned, the other most commonly reported oral findings are: short philtrum/upper lip (30%); high-arched palate (30%);[ncbi.nlm.nih.gov] Alveolar ridges in the mouth and wide-spaced nipples were also noted.[jcnonweb.com]

  • Disorder of Sex Development - Intellectual Disability Syndrome

    […] neck Decreased length of neck 0000470 Short nose Decreased length of nose Shortened nose [ more ] 0003196 Short philtrum 0000322 Short thorax Shorter than typical length[rarediseases.info.nih.gov] philtrum 60 33 hallmark (90%) Very frequent (99-80%) HP:0000322 13 deeply set eye 60 33 hallmark (90%) Very frequent (99-80%) HP:0000490 14 low-set, posteriorly rotated ears[malacards.org] […] intermamillary distance Wide-spaced nipples Widely spaced nipples Widely-spaced nipples [ more ] 0006610 Percent of people who have these symptoms is not available through[rarediseases.info.nih.gov]

  • X-Linked Intellectual Disability Type Snyder

    Snyder-Robinson syndrome (SRS, OMIM: 309583) is an X-linked intellectual disability (XLID) syndrome, characterized by a collection of clinical features including facial asymmetry, marfanoid habitus, hypertonia, osteoporosis and unsteady gait. It is caused by a significant decrease or loss of spermine synthase (SMS)[…][ncbi.nlm.nih.gov]

  • Pitt-Hopkins Syndrome

    As the child grows, they may develop deep-set eyes, a high nasal root with prominent nasal bridge, wide nostrils and down-turned nasal tip; a short philtrum, and a wide mouth[ncbi.nlm.nih.gov] Wide-spaced nipples and sacral dimple have been described in rare cases.[ncbi.nlm.nih.gov] Note prominent nose with depressed tip, short philtrum, full lips, wide mouth with downturned corners, and well-developed chin.[ncbi.nlm.nih.gov]

  • Wolf Hirschhorn Syndrome

    The facial dysmorphic features in the present case were dolichocephaly; high forehead; large rectangular nose continuing to the eyebrows; hypertelorism; short philtrum; carp-shaped[ncbi.nlm.nih.gov] spaced nipples Hypoplasia or duplication of thumbs and great toes Talipes equinovarus Hypoplasia of pubic bones Vertebral and rib anomalies Defective calvaria ossification[emedicine.medscape.com] The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.[ncbi.nlm.nih.gov]

  • Cerebro-Facio-Thoracic Dysplasia

    […] 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] ., truncal obesity, hypotonia, short philtrum, prominent frontal incisors, high-arched palate, narrow hands ... 513 A novel developmental and immunodeficiency syndrome associated[biomedsearch.com] Pashayan: MR; truncal obesity, webbed neck, blepharophimosis Simple philtrum, thin upper lip, flat, broad nasal bridge, short stubby nasal tip, hypertelorism, developmental[en.wikibooks.org]

  • Velocardiofacial Syndrome

    spaced nipples with abnormal fat distribution, heart defect, scoliosis, asymmetric limb development, abnormal hands and feet, and hyperchromic skin patches.[ncbi.nlm.nih.gov] […] short stature, peculiar face with hypertelorism, prominent nose, abnormal ears, microstomia and crowded teeth, short broad neck and shield chest with pectus deformity and widely[ncbi.nlm.nih.gov]

  • Fetal Warfarin Syndrome

    […] palepebral fissures, long philtrum heart and lung fistulas alcohol is leading cause of mental retardation Please rate topic.[medbullets.com] spaced nipples and the Dandy-Walker malformation.[symptoma.com] Symptoms and Signs Symptoms include low birth weight, seizures, reduced muscle tone, deafness, feeding difficulty, shortened fingers, widely spaced nipples, and failure to[dianamossop.com]

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