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384 Possible Causes for Round Face, Short Neck, 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] Many have short necks, a protuberant abdomen, a broad chest, and facial coarseness.[disorders.eyes.arizona.edu] […] 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]

  • 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] Initial physical examination revealed the presence of a coarse facies, short neck, kyphosis, restricted joint movements and deformities, and cardiac murmur besides a normal[ncbi.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] Airway evaluation: abnormal neck anatomy, short neck with limited mobility, hyromental and thyromentonian distance less than 6 cm, severely limited jaw protrusion, mouth opening[omicsonline.org] 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]

  • 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] Partial expression of the syndrome was confirmed in two of the three examined obligate female heterozygotes, who had short stature, small hands and feet, short neck, and a[ncbi.nlm.nih.gov] 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]

  • 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] Manifestations included neonatal respiratory distress, large head, midface hypoplasia, flat nasal bridge, short nose, micrognathia, cleft palate, short neck, micromelia, and[ncbi.nlm.nih.gov] 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

    Some common physical signs of the disorder include a small head, flattened face, short neck, up-slanted eyes, low-set ears, enlarged tongue and lips, and sloping underchin[britannica.com] 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] Some common physical features of Down syndrome include: A flattened face, especially the bridge of the nose Almond-shaped eyes that slant up A short neck Small ears A tongue[cdc.gov]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[reference.md] Symptoms via clinical synopsis from OMIM: 57 Head And Neck Neck: short neck wide neck Head And Neck Nose: depressed nasal bridge broad nasal bridge upturned nose Skeletal[malacards.org] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short foot Short feet Small feet [ more ] 0001773 Short metacarpal Shortened long bone of hand[rarediseases.info.nih.gov]

  • Chromosome 18p Deletion Syndrome

    hernia (7%) Coloboma (4%) Eczema (4%) Inguinal hernia (4%) Large protruding forehead (4%) Dysplastic teeth (4%) Delayed fontanel closure (4%) Chorea (3%) Low posterior hairline[en.wikibooks.org] neck.[kns.cnki.net] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[checkorphan.org]

  • Chromosome 6q11-q14 Deletion Syndrome

    OMIM : 58 The cardinal features of chromosome 6q11-q14 interstitial deletions include hypotonia, short stature, skeletal/limb anomalies, umbilical hernia, and urinary tract[malacards.org] Neck Short Neck And Torticollis Muscles Hypotonia Nervous System Seizures Respiratory System Tracheo-Esophageal Fistula Gastrointestinal System Intestinal Malformations Synonyms[neo-genetics.com] Distinctive facies: hypertelorism, rounded face, epicanthic folds, low set ears. 5q35 deletion. Loss of NSD1 gene. Not cytogenetically detectable 95% de novo.[brainscape.com]

  • Craniofrontonasal Dysplasia

    hernia Abnormality of the breast Aplasia / Hypoplasia of the nipples Unilateral breast hypoplasia Abnormality of the digestive system Umbilical hernia Abnormality of the[familydiagnosis.com] […] shoulders Rounded, sloping shoulders Sloping shoulders [ more ] 0200021 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Finger syndactyly[rarediseases.info.nih.gov] However, on examination, his mother was noted to have hypertelorism and a broad nasal tip along with a medical history of an umbilical hernia and widely spaced incisors.[ncbi.nlm.nih.gov]

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