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309 Possible Causes for Dysmorphic Face, Round Face, Umbilical Hernia

  • Mucopolysaccharidosis 2

    The boy’s past history included an umbilical hernia ( Figure 2 ) and chronic otitis media requiring myringotomy tube insertion and adenoidectomy, with conductive hearing loss[consultant360.com] […] resulting in large rounded cheeks and thick lips – generally manifests between ages 18 months and four years in the early progressive form and about two years later for those[ncbi.nlm.nih.gov] […] and inguinal hernia, diarrhea, developmental delay, and intellectual disability.[symptoma.com]

  • Mucopolysaccharidosis

    The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[ghr.nlm.nih.gov] Early signs and symptoms of MPS II include ear/sinus infections and umbilical hernia, behavioral disturbance, and skeletal anomalies.[centogene.com]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] The diagnosis is commonly established between 4 and 18 months of age, as infant can appear normal at birth (or presenting with inguinal or umbilical hernias only).[news-medical.net] Children with MPS I often have no signs or symptoms of the condition at birth, although some have a soft out-pouching around the belly-button (umbilical hernia) or lower abdomen[ghr.nlm.nih.gov]

  • Kniest Dysplasia

    hernia 0001537 Showing of 53 Last updated: 5/1/2019 Making a diagnosis for a genetic or rare disease can often be challenging.[rarediseases.info.nih.gov] Both have dysmorphic faces, while myopia and cleft palate may be present.[raredisorders.imedpub.com] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com]

  • Down Syndrome

    Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] 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] Common but not universal features include short stature, round face, almond-shaped and up-slanting eyes. Such features are not medical conditions. 4.[globaldownsyndrome.org]

  • Beckwith-Wiedemann Syndrome

    hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[ncbi.nlm.nih.gov] They also noted persistent physical differences, including prominent occiput, prominent forehead, round face with full cheeks, deep-set eyes with epicanthic folds, hypertelorism[ncbi.nlm.nih.gov] In addition, the infant had some features reminiscent of Beckwith Wiedemann syndrome including macroglossia, umbilical hernia, and a relatively large birth weight and we speculate[ncbi.nlm.nih.gov]

  • Simpson Dysmorphia Syndrome

    hernia ), and skeletal anomalies. [3] [4] Some people with the condition have a mild to severe intellectual disability.[rarediseases.info.nih.gov] , round face, hypoplastic supraorbital ridge, epicanthus, cleft palate TM Diastrophic dysplasia sulfate transporter DTDST 5q32-q33.1 222600 Diastrophic dysplasia 222600 AR[widesmiles2.org] […] hypotrophy syndrome Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome Intellectual disability-developmental delay-contractures syndrome Intellectual[se-atlas.de]

  • Aarskog-Scott Syndrome

    Less often, they have undescended testes (cryptorchidism) or a soft out-pouching around the belly-button (umbilical hernia) or in the lower abdomen (inguinal hernia).The intellectual[en.wikipedia.org] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov] In addition, several dysmorphic features, especially of the face and hands were present, which were also found in the mother and the sister.[ncbi.nlm.nih.gov]

  • Robinow Syndrome

    Umbilical hernia (32.3%) and supernumerary teeth (10.3%) were found exclusively in patients with the dominant form. (c) 2007 Wiley-Liss, Inc.[ncbi.nlm.nih.gov] Facial Abnormalities Rounded face with a broad forehead Widely spaced eyes (hypertelorism) Drooping of the eyelids (ptosis) Downwardly slanting eyelid folds Small nose with[medcaretips.com] The dysmorphic face was characterized by low set ears, flat-saddle nose, hypertelorism, elevated tip of nose and fish mouth ( Figure 1 ).[thritajournal.com]

  • Schwartz-Jampel Syndrome

    hernia ; Weak voice ; Wrist flexion contracture Associated Genes HSPG2 (Withdrawn symbols: PRCAN, SJS1, perlecan ) Mouse Orthologs Hspg2 (Withdrawn symbols: AI852380, Plc[mousephenotype.org] […] back [ more ] 0002808 Mask-like facies Expressionless face Lack of facial expression Mask-like facial appearance [ more ] 0000298 Micrognathia Little lower jaw Small jaw[rarediseases.info.nih.gov] The child had a short neck, blepharophimosis, flattened face, hypertrichosis of the eyelids, prominent eyebrows, high arched palate, low set ears, micrognathia, short stature[advbiores.net]

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