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23 Possible Causes for Physical Features Apparent at Birth, prenatal and postnatal, Short Stature

  • Wiedemann-Rautenstrauch Syndrome

    Patients have premature aging aspect, short stature and a poorly muscled build.[accessanesthesiology.mhmedical.com] She had prenatal and postnatal growth failure, generalized lipoatrophy except for fat pads in the suprabuttock areas, triangular face, pseudohydrocephalous, sparse scalp hair[ajol.info] […] and postnatal growth retardation), and deficiency or absence of the layer of fat under the skin (subcutaneous lipoatrophy).[metrohealth.net]

  • Turner Syndrome

    stature (Short-Stature Group) were enrolled.[ncbi.nlm.nih.gov] Research Prenatal and postnatal...[doi.org] For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early.[mayoclinic.org]

  • Mucopolysaccharidosis

    The pathogenesis and treatment of systemic skeletal dysplasia in MPS IVA remains an unmet challenge.[ncbi.nlm.nih.gov] Diagnosis Prenatal screening studies that may be useful include the following: Chorionic villus sampling Amniocentesis Postnatal diagnostic studies that may be helpful include[emedicine.medscape.com] These features may not be apparent at birth but progress as deposition of glycosoaminoglycans increases and can affect bone, structural structure, connective tissues and organs[slideshare.net]

  • Mucopolysaccharidosis 4A

    Short stature, skeletal dysplasia, dental anomalies and corneal clouding are the hallmarks of MPS-IVA.[symptoma.com] These features may not be apparent at birth but progress as deposition of glycosoaminoglycans increases and can affect bone, structural structure, connective tissues and organs[slideshare.net] Clinical findings Short stature, skeletal dysplasia, dental anomalies, and corneal clouding.[medical-dictionary.thefreedictionary.com]

  • Mucopolysaccharidosis 4

    Morquio type B is characterized by a generalized skeletal dysplasia resulting in short stature, pectus carinatum (protrusion of the sternum), platyspodylia, scoliosis and[themedicalbiochemistrypage.org] Only postnatal diagnoses or prenatal diagnoses that resulted in a live birth were included.[ojrd.biomedcentral.com] These features may not be apparent at birth but progress as deposition of glycosoaminoglycans increases and can affect bone, structural structure, connective tissues and organs[slideshare.net]

  • Mucopolysaccharidosis 1H

    Other causes of general learning disability and short stature.[patient.info] Gargoylism (Hunter-Hurler's disease, dysostosis multiplex, lipochondodystrophy) prenatal and neonatal bone lesions and their early postnatal evaluation. Amer. J.[link.springer.com] Signs & Symptoms Some of the physical features associated with I-cell disease (ML II) may be apparent at birth (congenital), whereas other features may become apparent between[rarediseases.org]

  • SHORT Syndrome

    Hyperphagic short stature is associated with learning disabilities.[patient.info] A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] Features People with Down syndrome share a host of recognizable facial and physical features . These are most apparent at birth and can become more pronounced with time.[verywellhealth.com]

  • Achondroplasia

    BACKGROUND: Achondroplasia, showing short stature and disproportionately short limbs, causes physical inconvenience such as difficulty in reaching high objects.[ncbi.nlm.nih.gov] Compound heterozygosity for the achondroplasia-hypochondroplasia FGFR3 mutations: prenatal diagnosis and postnatal outcome. Am. J. Med. Genet. 84: 401-405, 1999.[med2000eco.it] A diagnosis of Achondroplasia would involve: While the disease cannot be confirmed until after birth, the physical features of Achondroplasia are distinct and are usually[dovemed.com]

  • Mosaic Monosomy X

    Signs and symptoms include short stature and hypogonadism.[icd10data.com] […] and postnatal analysis of samples with a 45,X karyotype.[nature.com] For some girls, the presence of Turner syndrome may not be readily apparent, but in other girls, a number of physical features and poor growth are apparent early.[mayoclinic.org]

  • Acrootoocular Syndrome

    […] foot ; Short metacarpal ; Short phalanx of finger ; Short stature ; Wide nasal base Associated Genes - Mouse Orthologs - Source OMIM:264475 (names, synonyms, disease associated[mousephenotype.org] Familial Dandy-Walker malformation associated with macrocephaly, facial anomalies, developmental delay, and brain stem dysgenesis: prenatal diagnosis and postnatal outcome[link.springer.com] […] and physical features that may vary greatly in range and severity from case to case.[rarediseases.org]

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