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156 Possible Causes for Deep Philtrum, Deeply Grooved Philtrum

  • Noonan Syndrome

    Noonan syndrome presents with distinctive facial features, such as: A deep philtrum (groove between the nose and mouth) Hypertelorism (widely spaced eyes) Low-set ears rotated[dermnetnz.org] grooved philtrum High wide peaks to vermillion border of upper lip Excess nuchal skin and low posterior hairline Children [ edit ] Facial appearance lacks expression (resembles[en.wikibooks.org] The facial phenotype includes features such as a deep philtrum, wide-set eyes and low-set ears.[fdna.com]

  • Legius Syndrome

    Noonan like features include congenital heart problems, hyperextensibility, low muscle tone, low set and posteriorly rotated ears, deeply grooved philtrum, wide spaced eyes[inspire.com]

    Missing: Deep Philtrum
  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    […] groove in the area between the nose and mouth (philtrum), widely spaced eyes that are usually pale blue or blue-green in color, and low-set ears that are rotated backward[icdlist.com] grooved philtrum Hypertelorism : Widely spaced eyes Depressed nasal bridge Down -slanting palpebral fissures Low set ears, posteriorly rotated High arched palate Misalignment[pedclerk.bsd.uchicago.edu] grooved philtrum (top lip line) (over 90%) Micrognathia (undersized lower jaw) High arched palate Dental problems Articulation difficulties Poor tongue control Limbs/extremities[en.wikipedia.org]

  • King Syndrome

    Neurologic examination showed hypotonia with mild facial and proximal limb weakness and normal deep tendon reflexes.[n.neurology.org] grooved philtrum (top lip line) (over 90%) Micrognathia (undersized lower jaw) High arched palate Dental problems Articulation difficulties Poor tongue control Limbs/extremities[en.wikipedia.org] Hypotonia and dysmorphism (bilateral ptosis, limited vertical gaze, a high-arched palate, prominent philtrum, and scaphocephaly) were noted at birth.[n.neurology.org]

  • Trisomy 9

    Physical features included: scaphocephaly, frontal atrophy with deep forehead creases, microphthalmia with small palpebral fissures, broad nasal bridge, short philtrum, small[ashg.org] […] in the center of the upper lip (philtrum).[rarediseases.org] Characteristic eye abnormalities may also be present, such as deeply set, widely spaced eyes; downwardly slanting eyelid folds (palpebral fissures); vertical skin folds that[rarediseases.org]

  • Trisomy 8q

    Additional findings included a webbed neck, hypoplastic and wide spaced nipples, bilateral cryptorchidism, anteriorly placed anus and deep sacral crease.[ashg.org] […] in the center of the upper lip (philtrum).[rarediseases.org] […] severely dysmorphic with facial features that included frontal bossing, downslanting long palpebral fissures, low set dysplastic ears, wide/broad nasal bridge, short smooth philtrum[ashg.org]

  • Mental Retardation

    Craniofacial features include prominent forehead, long narrow face, maxillary hypoplasia, small mandible, long nose with high and narrow nasal bridge, short and deep philtrum[ojrd.biomedcentral.com]

    Missing: Deeply Grooved Philtrum
  • Hypertelorism

    philtrum, and a prominent forehead.[ncbi.nlm.nih.gov] […] reviewed the previous reports of THS and note a characteristic facial appearance with hypertelorism, heavy, broad, and arched eyebrows, a thin upper lip with a long and deep[ncbi.nlm.nih.gov]

    Missing: Deeply Grooved Philtrum
  • Sanjad-Sakati Syndrome

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

    Missing: Deeply Grooved Philtrum
  • Trichofolliculoma

    Abstract A trichofolliculoma occurring in the mid-philtrum of the upper lip of a 17-year-old boy is reported.[ncbi.nlm.nih.gov] It presented as an asymptomatic, 10 mm deep sinus and histology showed keratin-filled cysts or sinuses lined by stratified squamous epithelium.[ncbi.nlm.nih.gov]

    Missing: Deeply Grooved Philtrum

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