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418 Possible Causes for Developmental Delay, 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] delay, and intellectual disability.[symptoma.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]

  • 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] He had mild dysmorphic features with prominent speech developmental delays and, to a lesser extent, motor developmental delays.[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] Developmental delays, hearing loss and macroglossia contribute to severely reduced language acquisition.[symptoma.com] 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] He has short stature, webbing of his hands, pulmonary stenosis, seizures and hydrocephalus along with developmental delay.[ggc.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]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] The combination of characteristic facies and developmental delay, with the peculiar radiographic findings of accelerated dysharmonic osseous maturation and splaying of the[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • 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] Features that often occur in people with chromosome 18p deletion include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[malacards.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]

  • Trisomy 20p

    * Large ears * Mental deficiency * Poor coordination * Reduced muscle tone * Tremor * Umbilical hernia * Widely spaced eyes Prevention - Chromosome 20- duplication 20p Not[checkorphan.org] delay, among other symptoms.[rarechromo.org] A round face with oblique palpebral fissures, strabismus, cardiac and vertebral abnormalities, mild psychomotor retardation, together with poor coordination and speech impediment[ncbi.nlm.nih.gov]

  • Cutis Laxa

    hernia.[healthceo.blogspot.com] delay.[scielo.br] , bluish discoloration of the whites of the eyes (blue sclera), and a triangular-shaped face with a prematurely-aged appearance.[rarediseases.org]

  • Marshall-Smith Syndrome

    hernia Causes No specific gene has been linked to Marshall-Smith syndrome and other genetic background is still not yet known.[medigest.uk] We report a child of 3 years 9 months with the Marshall-Smith syndrome (MSS), characterised by the typical facial features, developmental delay, and advanced bone age.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net]

  • Beckwith-Wiedemann Syndrome

    hernia, organomegaly, ear lobe creases, and occurrence of embryonal tumors as characteristic features.[ncbi.nlm.nih.gov] The patient's clinical symptoms, including developmental delay and facial dysmorphism, were typical of BWS with paternal 11p15 trisomy.[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]

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