Create issue ticket

485 Possible Causes for Dysmorphic Face, Long Philtrum

  • Williams Syndrome

    philtrum, wide mouth, full lips, and pointed chin), a sociable personality, and mild to moderate mental retardation but a high verbal aptitude Comments on Williams syndrome[merriam-webster.com] It is characterized by dysmorphic face, cardiovascular disease, idiopathic hypercalcemia, mental retardation, and an uneven profile of cognitive-linguistic abilities and deficits[ncbi.nlm.nih.gov] She had hypotonia and large tongue, "coarse" face, and umbilical hernia in presence of complex congenital cardiovascular malformations.[ncbi.nlm.nih.gov]

  • Trisomy 9

    philtrum, small mouth, down-turned at the corners, micrognathia, midline cleft involving the hard and soft palate and a webbed neck.[healio.com] A repeat scan at 23 weeks also revealed a dysmorphic face, bilateral microphthalmia, and a cerebellar vermian defect.[ncbi.nlm.nih.gov] Dysmorphisms in the heart , kidneys , and musculoskeletal system may also occur.[en.wikipedia.org]

  • Robinow Syndrome

    philtrum, small chin, brachydactyly, hypoplastic genitalia and a normal karyotype.[ncbi.nlm.nih.gov] Robinow Syndrome (RS), a rare skeletal dysplasia syndrome, is characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, hypoplastic external[ncbi.nlm.nih.gov] Definition A form of Robinow syndrome, a rare skeletal dysplasia syndrome characterized by dysmorphic features resembling a fetal face, mesomelic limb shortening, genital[uniprot.org]

  • 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[ncbi.nlm.nih.gov] The significant features of this syndrome include facial dysmorphism with gloomy face and very short stature, but no radiological abnormality or hormone deficiency.[ncbi.nlm.nih.gov] philtrum, fleshy tipped nose, midface hypoplasia and frontal bossing.[3msyndrome.wordpress.com]

  • Pallister-Killian Syndrome

    Individuals with PKS show a characteristic facial phenotype with frontal bossing, alopecia, sparse eyebrows, depressed nasal bridge, long philtrum, telecanthus, and posteriorly[ncbi.nlm.nih.gov] Craniofacial dysmorphism is typically present. For instance, a prominent forehead and a flat face are usually seen and the nose is small and nostrils anteverted.[jle.com] philtrum, short neck, low-implanted ears, large tongue, hypoplastic nails and small hands, sparse hair and areas of unusual skin pigmentation.[symptoma.com]

  • Miller Dieker Syndrome

    On examination, child had microcephaly, prominent forehead, a wide nasal bridge, low-set ears, upturned nares, long philtrum (vertical groove on the midline of the upper lip[ssajm.org] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org] philtrum with an abnormal upper lip, and micrognathia. [6] [7] Type 2 is caused by neuronal over-migration in development.[eyewiki.aao.org]

  • Schwartz-Jampel Syndrome

    […] eyelashes in irregular rows 0007740 Long philtrum 0000343 Low anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Malignant hyperthermia 0002047[rarediseases.info.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net] philtrum, dimpled chin, blepharophimosis, ulnar deviation of the hands, and flexion of the fingers.[annsaudimed.net]

  • Marshall's Syndrome

    He had ocular hypertelorism with midface hypoplasia and a broad, flat nasal bridge, anteverted nares, and long philtrum. He also had sparse lusterless scalp hair.[jmg.bmj.com] Widened middle and proximal phalanges, failure to thrive, craniofacial abnormalities (small face, prominent eyes, blue sclera, flat nose with anteverted nares, choanal atresia[icd10data.com] […] marked by large ears, broad forehead, hypertelorism, and long philtrum.[icd10data.com]

  • Mulibrey Nanism Syndrome

    philtrum, philtrum, prominent lips, “gloomy gloomy facies” facies[yumpu.com] : Dysmorphic Muscle weakness Treatment: Avoid fasting longer than 12 hours Laboratory Acute metabolic acidosis Ethylmalonate excretion: High SCAD deficiency: Generalized No[neuromuscular.wustl.edu] Affected patients usually have a triangle-shaped face with a pointed chin, large ears, full eyebrows, an upturned nose with a fleshy tip, long philtrum, and a prominent mouth[ijponline.biomedcentral.com]

  • Trigonocephaly

    philtrum and a drooping mouth.[hal-amu.archives-ouvertes.fr] Our patient had many of the clinical and anatomic findings typical of OTCS: the dysmorphic face, white matter alteration, as described by Lalatta [ 4 ] and by Azimi [ 5 ],[jmedicalcasereports.biomedcentral.com] Other features include microcephaly, peculiar facies (broad nasal ridge, short nose with a broad root, long philtrum, micrognathia, cowlick, low-set and posteriorly rotated[whonamedit.com]

Further symptoms