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107 Possible Causes for Small Chin, Small Upturned Nose

  • 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] 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.[cbsnews.com]

  • Robinow-Like 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] Some affected infants may have a broad, triangularly-shaped downwardly turned mouth with a long groove (philtrum) in the center of the upper lip; a small chin; a small jaw[rarediseases.org] […] infants may also have widely spaced eyes (ocular hypertelorism) that are prominent (exophthalmos); unusually wide, downwardly slanting eyelid folds (palpebral fissures); a small[rarediseases.org]

  • 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] Some affected infants may have a broad, triangularly-shaped downwardly turned mouth with a long groove (philtrum) in the center of the upper lip; a small chin; a small jaw[rarediseases.org] […] infants may also have widely spaced eyes (ocular hypertelorism) that are prominent (exophthalmos); unusually wide, downwardly slanting eyelid folds (palpebral fissures); a small[rarediseases.org]

  • RAPADILINO Syndrome

    Head and neck - intracranial bleed, learning difficulties, cerebellar hypoplasia, brachycephaly, micrognathia, squint, ptosis, small upturned nose, naevus flammeus on forehead[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]

  • Cornelia De Lange Syndrome

    The facial differences include thin, arched eyebrows; long eyelashes; low-set ears; small, widely spaced teeth; and a small, upturned nose. M ...[hon.ch] Intubation can be difficult in individuals with CdLS, owing to a small mouth, small chin, short neck, stiffness of the temporomandibular joints and cleft palate 52, 114.[doi.org] […] wide-spaced teeth Small upturned nose Other features include: Small head size Short stature Excessive hair growth, called hirsutism Gut symptoms such as episodes of loss[news-medical.net]

  • Weissenbacher-Zweymuller Syndrome

    Cleft palate, small mandible, mid-facial hypoplasia and small upturned nose are also common findings. read more[ctgt.net] […] upper lip (philtrum), prominent eyes, and small chin.[rarediseases.org] , upturned nose small lower jaw mild features that are similar to those of otospondylomegaepiphyseal dysplasia infants are smaller than average high-tone hearing loss occurs[anvita.info]

  • Mandibulofacial Dysostosis

    Skeletal features include brachycephaly, midface hypoplasia with a small upturned nose, brachydactyly, and lumbar spinal stenosis.[uniprot.org] […] receding chin; underdeveloped, malformed, or prominent ears; and small tufts of hair in front of the ears.[medical-dictionary.thefreedictionary.com] [acro- dysostosis] Acrodysostosis An autosomal dominant condition which primarily affects bone and is characterised by ocular hypertelorism, brachycephaly, small upturned[medical-dictionary.thefreedictionary.com]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    Individuals with Williams syndrome have a small upturned nose, a small chin, long upper lip with a wide mouth, small widely spaced teeth, and puffiness around the eyes.[encyclopedia.com] Both were mentally retarded and had large mouths, patulous lips, small chins, baggy cheeks, blunt upturned noses, wide-set eyes, left internal strabismus, and malformed teeth[mitchmedical.us] chin Small, widely spaced teeth Missing or crooked teeth Uneven eyes Folds over the corners of the eyes White starburst pattern around the iris, or colored part of the eye[webmd.com]

  • 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] Characteristic facial features may include a high forehead with furrows and vertical ridges, indentation of the temples, a small, upturned nose, up-slanting eyes, a small[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 significant manifestations associated[medigest.uk]

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