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145 Possible Causes for Small Chin, Small Upturned Nose

  • RAPADILINO Syndrome

    Head and neck - intracranial bleed, learning difficulties, cerebellar hypoplasia , brachycephaly , micrognathia , squint , ptosis , small upturned nose, naevus flammeus on[patient.info] Additional findings were absence of thumbs, dislocation of joints, unusual facies (long face with narrow palpebral fissures, long slender nose, small chin, and unusual ears[humpath.com] Symptoms - Rapadilino syndrome * Infant diarrhea * Radial aplasia * Absent or underdeveloped kneecap * Joint dislocation * Long nose * Small chin * Unusual ears * Cleft palate[checkorphan.org]

  • Marshall-Smith Syndrome

    […] chin and small, upturned nose, as well as advanced bone maturation for the age they are at, difficulty or failure to grow, severe respiratory problems, and difficulty to[enotes.com] Marshall-Smith syndrome: A disorder characterized by advanced bone age at birth, broad forehead, prominent eyes, and small chin .[medicinenet.com] […] and upturned nose * Remarkably small chin * Depressed nose * Shallow orbits * Obstructing tongue * Bluish sclera * Coarse eyebrows Other substantial manifestations associated[besttreatmenthq.com]

  • 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] Microcephaly (80% of cases), bitemporal narrowing, ptosis, a broad nasal bridge, short nasal root, anteverted nares (90% of cases), a small chin, and micrognathia are common[orpha.net]

  • Omodysplasia Type 1

    , upturned nose with nostrils that are flared forward (anteverted); a sunken (depressed) nasal bridge; and/or abnormally positioned (i.e. low-set, posteriorly rotated) ears[rarediseases.org] chin.[malacards.org] Typical facies include a prominent forehead, frontal bossing, short nose with a depressed broad bridge, short columella, anteverted nostrils, long philtrum and small chin.[medical-dictionary.thefreedictionary.com]

  • Hypertelorism

    Williams7 deletionSmall, upturned nose; wide mouth; full lips; small chin; widely spaced teeth; long philtrum.Developmental delay; supravalvular aortic stenosis; hypercalcaemia[dontforgetthebubbles.com] […] mild exophthalmos, downslanting palpebral fissures, a depressed nasal bridge, a broad nasal tip, a long philtrum, natal teeth, a thin upper lip, an everted lower lip, a small[ncbi.nlm.nih.gov] , upturned nose; low set ears; deep philtrum.Pulmonary valve stenosis; hypertrophic cardiomyopathy; pectus excavatum or carinatum; joint hyperextensiblity; cryptorchidism;[dontforgetthebubbles.com]

  • Williams Syndrome

    The most visible effect is that people with Williams Syndrome tend to have similar facial features including a small upturned nose, long upper lip, and small chin.[childrensupportsolutions.com] They also have unique pixie-like facial features--almond shaped eyes, oval ears, full lips, small chins, narrow faces, and broad mouths.[autism.com] Common symptoms of the condition include: specific facial features like a wide mouth, small upturned nose, widely spaced teeth, and full lips colic or feeding problems attention[healthline.com]

  • Zori-Stalker-Williams Syndrome

    chin), hypercalcaemia , short stature, mental retardation , and aortic stenosis .[medicine.academic.ru] […] a hereditary condition, caused by a defect ( a deletion ) in chromosome 7, marked by a characteristic 'elfin' facial appearance (including large eyes, a wide mouth, and small[medicine.academic.ru] chin), hypercalcaemia, short stature, mental retardation, and aortic… … The new mediacal dictionary Williams syndrome — /ˈwɪljəmz sɪndroʊm/ (say wilyuhmz sindrohm) noun a[medicine.academic.ru]

  • Autosomal-Recessive Robinow Syndrome

    , upturned nose with nostrils that are flared forward (anteverted); a sunken (depressed) nasal bridge; and/or abnormally positioned (i.e. low-set, posteriorly rotated) ears[rarediseases.org] . [1] Clinical features also may include a short, upturned nose, a prominent forehead, and a flat nasal bridge.[en.wikipedia.org] The facial features of Robinow syndrome include a flat nasal bridge, slightly upturned nose, triangular-shaped mouth, protruding forehead (frontal bossing), wide space between[encyclopedia.com]

  • PDE4D Haploinsufficiency Syndrome

    Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis.[genecards.org] […] via clinical synopsis from OMIM: 57 Head And Neck Eyes: ptosis strabismus esotropia long palpebral fissures Head And Neck Face: long philtrum micrognathia large forehead small[malacards.org] chin.[ncbi.nlm.nih.gov]

  • Noonan Syndrome 1

    , 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]

Further symptoms