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253 Possible Causes for Delayed Milestone, 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] However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[thinkgenetic.com] 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] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[babysfirsttest.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]

  • 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] They, however, had a history of delayed milestones and impaired adaptive functioning. Family history was noncontributory.[mjdrdypu.org]

  • 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] One study found that mice with Down syndrome who were treated in the womb with specific chemicals had no delay in achieving several developmental milestones. 1 Another study[nichd.nih.gov] 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]

  • 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] Individuals diagnosed with the condition have delayed growth spurts (periods of rapid increase in baby growth – in height/weight) and delayed developmental milestones.[dovemed.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] Most children with 9p Deletions experience a significant delay in reaching developmental milestones Almost all children with 9p Deletions require PT and OT related to issues[9pminus.org]

  • 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] Although intelligence is usually unaffected, there may be delay in children attaining certain developmental milestones.[rarediseases.org] Other features of the disease include the presence of tracheal stenosis, tracheomalacia, blepharoptosis, proptosis, glossoptosis, umbilical or inguinal hernia, and motor delay[symptoma.com]

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[ncbi.nlm.nih.gov] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[medindia.net] Delay in the attainment of milestones of development and, in particular, speech is almost always present, and clumsiness is frequent (60 to 80%), as are hypotonia and lax[scielo.br]

  • Velocardiofacial Syndrome

    hernia) • Failure of the testes to descend into the scrotum in males (cryptorchidism) • Differences in the structure of the kidneys • Absent or small adenoids and absent[rarediseases.org] VFCS typically presents with abnormal shapes of structures in the face; with cleft palate, a term for incomplete fusion of the palate causing feeding problems.[symptoma.com] Many infants present with generalized hypotonia and delayed milestones. There are psychological consequences with the reduction of full-scale intelligence quotient.[clinicaladvisor.com]

  • Propionic Acidemia

    hernia, and skin mottling) As maternal thyroid hormone is excreted and disappears in the first few weeks  clinical features gradually become apparent: Slow to feed, constipated[slidex.tips] At 3 years of age, neurodevelopment showed globally delayed milestones.[ncbi.nlm.nih.gov] Some children with propionic acidemia (PROP) have developmental delays.[babysfirsttest.org]

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