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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).[] However, some children can have delays in reaching developmental milestones or learning disabilities because of certain symptoms, particularly spinal problems, related to[] Early signs and symptoms of MPS II include ear/sinus infections and umbilical hernia, behavioral disturbance, and skeletal anomalies.[]

  • Mucopolysaccharidosis 1

    Umbilical hernias and inguinal hernias. Joint stiffness and skeletal deformities. Cardiomyopathy and coronary heart disease. Hepatosplenomegaly.[] Some children with mucopolysaccharidosis type I (MPS I) have developmental delays.[] 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).[]

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

  • 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[] 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[] 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[]

  • 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[] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[] Individuals diagnosed with the condition have delayed growth spurts (periods of rapid increase in baby growth – in height/weight) and delayed developmental milestones.[]

  • 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[] […] symptoms listed below: * Growth retardation * Mental retardation * Reduced muscle tone * Small head * Drooping eyelids * Epicanthal folds * Low nasal bridge * Wide-set eyes * Round[] 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[]

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

  • Weaver Syndrome

    hernia, and hoarse low-pitched cry.[] , round face, abnormal positioning of the jaw, and a prominent chin with a central dimple.[] 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[]

  • 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[] 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.[] Many infants present with generalized hypotonia and delayed milestones. There are psychological consequences with the reduction of full-scale intelligence quotient.[]

  • 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[] At 3 years of age, neurodevelopment showed globally delayed milestones.[] Some children with propionic acidemia (PROP) have developmental delays.[]

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