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292 Possible Causes for Abnormal Gait, Round Face, Umbilical Hernia

  • 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] Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features.[genedx.com] 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]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[patient.info] Hypermobile joints and an abnormal gait with a tendency to fall may also be presenting features.[genedx.com] Dental abnormalities Pectus carinatum, kyphosis, scoliosis, genu valgum, hypermobile joints Waddling gait with frequent falls Qualitative urine glycosaminoglycan (GAG) analysis[centogene.com]

  • 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] , 79% of patients had skeletal manifestations with median onset at 3.5 years and 25% had abnormal gait.[actamedicaphilippina.com.ph] […] 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]

  • 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] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com] The disease has_symptom large joints, has_symptom wide set eyes, has_symptom round flat face. ( 3 ) References: GARD:6841 MESH:C537207 OMIM:156550 Ontology: Human Disease[zfin.org]

  • 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    hernia ; Weak voice ; Wrist flexion contracture Associated Genes HSPG2 (Withdrawn symbols: PRCAN, SJS1, perlecan ) Mouse Orthologs Hspg2 (Withdrawn symbols: AI852380, Plc[mousephenotype.org] […] disturbance Abnormal gait Abnormal walk Impaired gait [ more ] 0001288 Genu valgum Knock knees 0002857 Hip dysplasia 0001385 Hypertonia 0001276 Intellectual disability Mental[rarediseases.info.nih.gov] […] the umbilical cord joins the fetal abdomen (umbilical hernia).[rarediseases.org]

  • Inguinal Hernia

    See also the section specifically on Umbilical Hernias.[hernia.org] Question I lifted a heavy box and experienced pain on the side of my groin, and now I have difficulty walking.[wikihow.com] It has a roof facing anteriorly, a floor facing posteriorly, a superior (cranial) wall, and an inferior (caudal) wall.[emedicine.medscape.com]

  • 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] […] 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] Inguinal and umbilical hernia Immune system problems Recurring ear infections, especially when a child is very young Wound infections/wounds that won't heal properly Recurring[chop.edu]

  • Spondyloepiphyseal Dysplasia Type Cantú

    Pseudodiastrophic dysplasia 0 *Dwarfism *Heart Defects, Congenital *Hernia, Umbilical.[reference.md] In some cases, affected children may exhibit an unusual “waddling” manner of walking (abnormal gait).[rarediseases.org] : long philtrum round face midface hypoplasia coarse facies Skeletal Hands: brachydactyly short hands small carpals short, tapered phalanges single interphalangeal crease[malacards.org]

  • Autosomal Recessive Spastic Paraplegia Type 43

    En un único caso se documentó hernia umbilical, venas optociliares congénitas e hipoglucemia cetósica recurrente en la infancia.[femexer.org] Furthermore, among the core symptoms of HSP are also included abnormal gait and difficulty in walking, decreased vibratory sense at the ankles, and paresthesia. [10] Individuals[en.wikipedia.org] This HSP is characterized by early onset of spastic paraplegia, motor development delaying, mental retardation, dysmorphic features (short stature, round face, low anterior[intechopen.com]

  • Down Syndrome

    Less specific symptoms - eg, bladder problems, gait abnormalities or clumsiness - may also indicate need for further investigation.[patient.info] 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]

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