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78 Possible Causes for Flat Facial Profile

  • Down Syndrome

    How Down Syndrome Affects Kids Kids with Down syndrome tend to share certain physical features such as a flat facial profile, an upward slant to the eyes, small ears, and[kidshealth.org] 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]

  • Autosomal-Recessive Robinow Syndrome

    Am J Med Genet A. 2015 Dec;167A(12):3054-61. doi: 10.1002/ajmg.a.37287. Epub 2015 Aug 18. Aglan M 1, 2 , Amr K 2, 3 , Ismail S 1, 2 , Ashour A 1, 2 , Otaify GA 1, 2 , Mehrez MA 2, 4 , Aboul-Ezz EH 2, 5 , El-Ruby M 1, 2 , Mazen I 1, 2 , Abdel-Hamid MS 2, 3 , Temtamy SA 1, 2 . Author information 1 Department of Clinical Genetics,[…][ncbi.nlm.nih.gov]

  • Connective Tissue Disorder due to Lysyl Hydroxylase-3 Deficiency

    Dr. Robert Schleip is Director of the Fascia Research Group at Ulm University, Germany. In addition he serves as Research Director for the European Rolfing Association and maintains a part-time private practice as certified Rolfing practitioner as well as Feldenkrais teacher. He holds an M.A. degree in psychology[…][books.google.com]

  • Chondrodysplasia punctata Type Toriello

    In addition, patients present chondrodysplasia punctata, brachycephaly, flat facial profile with small nose, flat lower eyelids and low-set ears, developmental delay, brachytelephalangy[orpha.net] Flat face Flat facies, Flat facial profile, Flat facial shape [more] Absence of concavity or convexity of the face when viewed in profile.[rarediseases.oscar.ncsu.edu] Note flat profile. Fig. 4. Patient 2. Note pectus excavatum, facial appearance. Chondrodysplasia Punctata Syndrome 799 Fig. 5. Hand of patient 2.[documents.tips]

  • Robinow Syndrome

    facial profile, a long philtrum (Fig 1), hyperplastic alveolar ridges, a small upturned nose, a hypoplastic clitoris, short forearms, absence of the upper lacrimal puncta[jamanetwork.com] ... characterized by craniofacial abnormalities, genital hypoplasia, spinal cord malformations and skeletal dysplasia ... macrocephaly with a flat facial profile, hypertelorism[ibis-birthdefects.org] These result in a flat facial profile. The appearance of the face is similar to that of a fetus of about 8 weeks gestation.[rrnursingschool.biz]

  • Campomelic Dysplasia

    Affected children have a characteristically flat facial profile and present with respiratory distress. They all have markedly hypoplastic scapulae.[ncbi.nlm.nih.gov] We report a one-year-old boy who presented at birth with a flat facial profile with depressed nasal bridge, micrognathia, cleft palate and microstomia; genital findings consisting[nature.com] Affected children have a characteristically smooth facial profile and are born with respiratory distress.[ncbi.nlm.nih.gov]

  • 17q11 Microdeletion Syndrome

    facial profile, dolicocephaly, hypertelorism, short philtrum, flat nasal bridge and posteriorly… CONTINUE READING From This Paper Figures, tables, and topics from this paper[semanticscholar.org] […] novo deletion at 17q11.2 adjacent to NF1 gene, who presented with developmental delay, short stature, postnatal microcephaly, underweight and dysmorphic features including flat[semanticscholar.org]

  • Stickler Syndrome Type 2

    The flat facial profile of Marshall syndrome is usually evident into adulthood, unlike Stickler syndrome.[encyclopedia.com] Characterized by flat facial profile, cleft palate, and severe hearing loss ...[ibis-birthdefects.org] Spondyloepiphyseal dysplasia congenita, a disorder with skeletal changes more severe than in Stickler syndrome, manifests in significant short stature, flat facial profile[encyclopedia.com]

  • Wolf Hirschhorn Syndrome

    (flat facial profile, hypertelorism) is found.[ncbi.nlm.nih.gov] (flat facial profile, hypertelorism ) is found.[symptoma.com] […] trisomy 21. mental retardation, flat facial profile, prominent epicanthal folds (folds in the medial corner of the eye), Simian crease in the palm of the hand, intestinal[quizlet.com]

  • Spondyloepimetaphyseal Dysplasia-Hypotrichosis Syndrome

    The flat facial profile of Marshall syndrome is usually evident into adulthood, unlike Stickler syndrome.[encyclopedia.com] Spondyloepiphyseal dysplasia congenita, a disorder with skeletal changes more severe than in Stickler syndrome, manifests in significant short stature, flat facial profile[encyclopedia.com] A flat facial profile referred to as a "scooped out" face results from underdevelopment of the maxilla and nasal bridge, which can cause telecanthus and epicanthal folds.[encyclopedia.com]

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