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459 Possible Causes for Large Philtrum

  • Sanjad-Sakati Syndrome

    […] ears, long philtrum, thin lips and micrognathia), and mild to moderate intellectual deficiency.[orpha.net] (that can cause hypocalcemic tetany or seizures in infancy), severe growth retardation, typical facial features (long narrow face, deep-set eyes, beaked nose, floppy and large[orpha.net]

  • Hypertrichotic Osteochondrodysplasia

    philtrum, prominent mouth with full lips and macroglossia.[orpha.net] […] sella turcica Long philtrum Low anterior hairline Low posterior hairline Macrocephaly Prominent forehead ... ...[familydiagnosis.com] Dysmorphic features include macrocephaly and a coarse facial appearance with thick eyebrows, prominent supraorbital ridges, broad nasal bridge, anteverted nares, long and large[orpha.net]

  • Growth Failure

    The dysmorphic characteristics (Figure 1) included small triangular face with deep-set eyes and long eyelashes, a large nose, low-set ears, wide mouth, short philtrum, high-arch[hormones.gr]

  • Pulmonary Blastoma

    , small chin, thin nose, large eyes) Acrogeria (an aged appearance to the extremities, particularly the hands) Arteriovenous carotid-cavernous sinus fistula Hypermobility[findzebra.com] EDS type IV Minor diagnostic criteria for EDS type IV: Thin, translucent skin (especially noticeable on the chest/abdomen) Characteristic facial appearance (thin lips and philtrum[findzebra.com]

  • Microdeletion 3q29 Syndrome

    The most common features include mild-to-moderate intellectual deficit and slightly dysmorphic facial features: microcephaly, long and narrow face, short philtrum, large posteriorly[orpha.net] […] and large ears.[ncbi.nlm.nih.gov] […] developmental delay, autistic features, skeletal abnormalities and dysmorphic facial features with a relatively long face, long nose with a high bridge and broad tip, short philtrum[ncbi.nlm.nih.gov]

  • Weaver Syndrome

    , micrognathia and large ears, and unique behavior characteristics with some social withdrawal.[ncbi.nlm.nih.gov] , and large ears.[ncbi.nlm.nih.gov] […] micrognathia large ears hoarse-low pitched voice hypertonia of muscles mild developmental delay Associations thin-deep-set nails talipes equinovarus widened distal femora[radiopaedia.org]

  • Familial Infantile Myoclonic Epilepsy

    Additional features include coarse facies, a large nose with wide nasal bridge, bulbous tip and anteverted nares, a long prominent philtrum and downturned corners of the mouth[genecards.org]

  • Psychomotor Retardation

    Note prominent philtrum, large forehead, retrognathia, thin upper lip and low-set ears.[molecularcytogenetics.biomedcentral.com] The child presented a prominent philtrum, large forehead, retrognathia, thin upper lip and low-set ears (Figure 3 ).[molecularcytogenetics.biomedcentral.com]

  • Posterior Subcapsular Cataract

    His disease was further characterized by physical underdevelopment and distinct features of hypertelorism, a wide-based nose, long philtrum, relatively large mouth with thick[ncbi.nlm.nih.gov]

  • Autosomal Dominant Prognathism

    , large mouth with thin upper lip and thick, everted lower lip).[mendelian.co] […] mouth with thin upper lip, long philtrum, prominent earlobes SEC Sonic hedgehog SHH 7q36 600725 Holoprosencephaly, type 3 142945 AD cyclopia, ocular hypotelorism, proboscis[en.wikibooks.org] […] fontanelle, progressive complex spastic paraplegia, coarse facial features (broad and high forehead, deeply set eyes, short philtrum with thin upper lip, large mouth and[findzebra.com]

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