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802 Possible Causes for Short Philtrum

  • DiGeorge Syndrome

    In the orofacial area, hypertelorism, a short philtrum, thick and reflected lips, and hypoplasia of the nasopharynx were also observed.[ncbi.nlm.nih.gov] DGS Symptoms & Diagnosis Symptoms Certain facial features are often seen with DGS - low set ears, underdeveloped chin, a short philtrum (the vertical groove on the upper lip[aaaai.org] Short stature, learning difficulties or certain psychiatric disorders are also common.[aaaai.org]

  • Chromosome 4q32.1-q32.2 Triplication Syndrome

    Symptoms via clinical synopsis from OMIM: 57 Head And Neck Head: macrocephaly Head And Neck Face: frontal bossing short philtrum microretrognathia long midface hypoplastic[malacards.org] […] nose Short philtrum Small palpebral fissure Abnormality of the abdomen Aganglionic megacolon Constipation Abnormality of the digestive system ... ...[familydiagnosis.com] […] distal phalanx of finger Seizures Smooth philtrum Pulmonic stenosis Abnormal cardiac septum morphology Toe syndactyly Pectus carinatum Ambiguous genitalia Confusion Short[mendelian.co]

  • Hyperphosphatasia - Intellectual Disability Syndrome

    Midface hypoplasia, prognathism, hypertelorism, long palpebral fissures, arched eyebrows, broad nasal bridge and tip, cleft palate (rare), short philtrum, downturned corners[iofbonehealth.org]

  • Autosomal Recessive Mental Retardation 5

    short philtrum narrow face long face small chin Muscle Soft Tissue: hypertonia distal myopathy (in 1 family) Growth Weight: postnatal growth retardation low birth weight[malacards.org] philtrum, and full upper lip.[cags.org.ae] Neurologic Central Nervous System: dysarthria hyperreflexia delayed psychomotor development seizures (rare) mental retardation, moderate to severe more Head And Neck Face: smooth philtrum[malacards.org]

  • 3q13.31 Microdeletion Syndrome

    philtrum and protruding lips.[ncbi.nlm.nih.gov] 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[malacards.org] Clinical features of the emerging syndrome include development delay, hypotonia, high-arched palate, increased occipitofrontal circumference and distinctive facial features; short[asdgconference.com]

  • Marshall-Smith Syndrome

    […] distal phalanx of finger Short outermost finger bone 0009882 Short mandibular rami 0003778 Short philtrum 0000322 Short sternum 0000879 Sporadic No previous family history[rarediseases.info.nih.gov] […] blood pressure in blood vessels of lungs 0002092 Recurrent aspiration pneumonia 0002100 Shallow orbits Decreased depth of eye sockets Shallow eye sockets [ more ] 0000586 Short[rarediseases.info.nih.gov]

  • Hunter-MacDonald Syndrome

    Craniofacial manifestations include normal head circumference, tall forehead, bitemporal narrowing, ptosis, short palpebral fissures, and short philtrum.[ncbi.nlm.nih.gov] […] stature Cleft palate Epicanthus Global developmental delay Proptosis Oral cleft Finger syndactyly Long philtrum Micrognathia Depressed nasal bridge Low-set ears Shawl scrotum[mendelian.co] The characteristic facies of Lujan syndrome is long and thin with a tall forehead, short philtrum and sometimes micrognathia.[nature.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] philtrum, protruding lips, high-arched palate, bifid uvula, broad trunk, apparently widely spaced nipples, diastasis recti, small umbilical hernia, tapering fingers, fifth-finger[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] The facial phenotype is characterized by hypertelorism, protruding eyes, prominent glabella, broad nasal bridge and short philtrum.[ncbi.nlm.nih.gov] Microcephaly, hypertelorism, prominent glabella, high arched eyebrows, broad nose, short philtrum, downturned corners of the mouth, dysplastic ears with pits/tags.[genetics4medics.com]

  • X-Linked Intellectual Disability Type Snyder

    philtrum 0000322 Short stature Decreased body height Small stature [ more ] 0004322 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Tall stature[rarediseases.info.nih.gov] Short philtrum MedGen UID: 350006 • Concept ID: C1861324 • Finding Distance between nasal base and midline upper lip vermilion border more than 2 SD below the mean.[ncbi.nlm.nih.gov] philtrum Dolichocephaly Cerebral atrophy Joint hyperflexibility Pulmonic stenosis Long face Abnormality of the skin Aortic valve stenosis Abnormal heart valve morphology[mendelian.co]

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