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1,321 Possible Causes for Appear Normal at Birth

  • Mucopolysaccharidosis 1H

    Individuals with Hurler syndrome may appear normal at birth but typically develop the symptoms within the first two years of life.[nxgenmdx.com] Symptoms [ edit ] Symptoms of Hurler syndrome most often appear between ages 3 and 8. Infants with severe Hurler syndrome appear normal at birth.[en.wikibooks.org] Most infants appear normal at birth but in a few months undergo physical changes such as coarsening of facial features and head enlargement that suggest the diagnosis.[disorders.eyes.arizona.edu]

  • Mucopolysaccharidosis

    Individuals with Hurler syndrome may appear normal at birth but typically develop the symptoms within the first two years of life.[nxgenmdx.com] Appearance is normal at birth with excessive growth taking place during first two years of life.[icd9data.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]

  • Vitamin D Deficiency

    Patients appear normal at birth and manifests with signs between the ages of two months to two years.[ncbi.nlm.nih.gov]

  • Vulvitis

    To distinguish the fusion of the labia inflammatory origin from congenital fusion of the labia, it is necessary to consider that sex organs girls at birth were normal and[medicalency.com] […] that in history appears vulva.[medicalency.com]

  • Mucopolysaccharidosis 4A

    Although most individuals with Morquio syndrome appear normal at birth, skeletal abnormalities often develop within the first year of life.[centogene.com] Patients with more severe MPS II also appear normal at birth, and early developmental milestones may be normal.[link.springer.com] In most cases of MPS, affected infants appear normal at birth and symptoms become apparent around the age of one or two, however, in MPS VII, approximately 40% of pregnancies[rarediseases.org]

  • Ichthyosis Vulgaris

    Signs and symptomsinclude: skin may appear normal at birth skin gradually becomes dry, rough and scaly, usually before the age of one the face and the bends of the elbows[zana.com] IV usually presents in early childhood but an individual’s skin will usually appear normal at birth.[ichthyosis.org.uk] History Hereditary ichthyosisThe skin appears normal at birth, but scaling occurs in the first few years.[symptoma.com]

  • Mucopolysaccharidosis 1 H-S

    Most infants appear normal at birth but in a few months undergo physical changes such as coarsening of facial features and head enlargement that suggest the diagnosis.[disorders.eyes.arizona.edu] Infants generally appear normal at birth and develop the typical coarse facial features in the first few months of life.[disorders.eyes.arizona.edu] Diagnosis of Hurler syndrome is usually made between 4 and 18 months of age in infants that appeared normal at birth.[themedicalbiochemistrypage.org]

  • Familial Digital Arthropathy - Brachydactyly

    Individuals appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia.[malacards.org] OMIM : 58 Individuals with familial digital arthropathy-brachydactyly appear normal at birth, with no clinical or radiographic evidence of a developmental skeletal dysplasia[malacards.org] The earliest changes appear during the first decade of life.[malacards.org]

  • Tetrahydrobiopterin Deficiency

    Infants with BH4 deficiency usually appear normal at birth, but symptoms can present themselves over time.[diseaseinfosearch.org] Infants with this condition appear normal at birth, but medical problems ranging from mild to severe become apparent over time.[rxlist.com]

  • Streptococcal Infection

    Maternal infection and cerebral palsy in infants of normal birth weight. JAMA . 1997;278:207–11. 6. Platt MW, Gilson GJ.[aafp.org] Am Fam Physician . 1994;49:434–42[Published erratum appears in Am Fam Physician 1994;50:1471] 7.[aafp.org]

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