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71 Possible Causes for Dysmorphic Face, Small Chin, Small Upturned Nose

  • Williams Syndrome

    upturned nose Long ridges in the skin that run from the nose to the upper lip (philtrum) Prominent lips with an open mouth Skin that covers the inner corner of the eye ([web.archive.org] chin, and puffiness around the eyes.[mun.ca] 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]

  • SHORT Syndrome

    These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes.[williams-syndrome.org] Other characteristics common in SHORT syndrome are a triangular face, small chin with a dimple, a loss of fat under the skin ( lipodystrophy ), abnormal position of the ears[en.wikipedia.org] We report the two-year-four-month old female with SHORT syndrome who present growth retardation and dysmorphic features (triangular-shaped face, prominent forehead, ocular[ncbi.nlm.nih.gov]

  • Miller Dieker Syndrome

    , upturned nose; low-set and abnormally shaped ears; a small jaw; and a thick upper lip.[ghr.nlm.nih.gov] […] nose and chin, cardiac malformations, hypoplastic male extrenal genitalia, growth retardation, and mental deficiency with seizures and EEG abnormalities.[malacards.org] Intellectual impairment (moderate-severe), microcephaly, facial dysmorphism (narrow long face, retrognathia, short neck), cardiac (pulmonary stenosis) and ocular abnormalities[epilepsydiagnosis.org]

  • Smith Lemli Opitz Syndrome

    These include microcephaly (head size smaller than normal), micrognathia (abnormally small lower jaw), ptosis (drooping eyelids), a small upturned nose, and cleft palate or[themedicalbiochemistrypage.org] General appearance of face and small chin showed possible difficulties during intubation, which are well known from the literature.[ncbi.nlm.nih.gov] We present the case of an infant born by cesarean section for fetal suffering (Apgar score 8/1′–8/5′), with multiple malformations (dysmorphic face, polydactyly, syndactyly[endocrine-abstracts.org]

  • Robinow Syndrome

    […] mouth, a flat facial profile, a long philtrum (Fig 1), hyperplastic alveolar ridges, a small upturned nose, a hypoplastic clitoris, short forearms, absence of the upper lacrimal[jamanetwork.com] chin, brachydactyly, hypoplastic genitalia and a normal karyotype.[ncbi.nlm.nih.gov] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com]

  • Pallister W Syndrome

    These features include a small upturned nose, long philtrum (upper lip length), wide mouth, full lips, small chin, and puffiness around the eyes.[williams-syndrome.org] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com] […] of the upper lip, or a short nose with upturned nostrils with a flat or broad nasal bridge.[ucsdguardian.org]

  • Crouzon Syndrome

    The upper lip often appears small, and children may have a cleft palate. The nose is generally smaller, beak-like, and slightly upturned.[craniofacial.net] And I am not talking about crooked nose or small chin here.[candar.wordpress.com]

  • Noonan Syndrome

    , upturned nose Small jaw, crowding of the lower teeth Deeply grooved philtrum (top lip line), high arched palate Excess skin in the back of the neck, low hairline at the[dovemed.com] These may include an unusually deep vertical groove in the middle of the upper lip (philtrum); and/or a small chin.[rarediseases.org] [ edit ] Small, upturned nose Ears and hearing [ edit ] Low-set ears (in over 90%) Backward-rotated ears (over 90%) Thick helix (outer rim) of ear (over 90%) Incomplete folding[en.wikipedia.org]

  • Down Syndrome

    These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com] People with Down syndrome may have some or all of these physical characteristics: a small chin, slanted eyes, poor muscle tone, a flat nasal bridge, a single crease of the[en.wikipedia.org] White flecks in the colored part of the eyes (Brushfield spots) A short neck and a small head that's somewhat flat in the back (brachycephaly) A single crease across the[verywell.com]

  • Fetal Alcohol Syndrome

    These include small eyes, short or upturned nose, flat cheeks, and thin lips.[americanpregnancy.org] […] or flat midface, a flat elongated philtrum, a thin upper lip, and a small chin.[msdmanuals.com] Facial abnormalities: small eye openings; skin webbing between eyes and base of nose; drooping eyelids; nearsightedness; failure of eyes to move in same direction; short upturned[well.com]