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112 Possible Causes for Prenatal-Onset Short Stature

  • Mulibrey Nanism Syndrome

    Phenotype and clinics Growth: Short stature with prenatal onset (birth length and birth weight 1.5 - 2 SD below mean with relatively macrocephaly - occipitofrontal head circumference[atlasgeneticsoncology.org] Body asymmetry is not present in 3-M syndrome, while short stature with prenatal onset and a small triangular face are found in both syndromes.[ijponline.biomedcentral.com]

  • Anauxetic Dysplasia

    Format Definition An autosomal recessive spondyloepimetaphyseal dysplasia characterized by severe short stature of prenatal onset, very short adult height (less than 1 meter[uniprot.org] Get Update Overview Anauxetic dysplasia is a form of spondylometaepiphyseal dysplasia characterized by the prenatal onset of extreme short stature, an adult height of less[diseaseinfosearch.org] Anauxetic dysplasia is a form of extreme short stature of prenatal onset, hypodontia and mild mental retardation.[genedx.com]

  • Cartilage Hair Hypoplasia

    We diagnosed cartilage-hair hypoplasia (CHH) in a female child with prenatal-onset short stature, metaphyseal chondrodysplasia, and severe combined immunodeficiency leading[ncbi.nlm.nih.gov] Seger Abstract Abstract We diagnosed cartilagehair hypoplasia (CHH) in a female child with prenatal-onset short stature, metaphyseal chondrodysplasia, and severe combined[springerlink.com] We propose that the most consistent and reliable features of CHH are short stature of prenatal onset and ectodermal dysplasia, and suggest that the diagnosis of CHH be considered[ncbi.nlm.nih.gov]

  • Bloom Syndrome

    Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased[ncbi.nlm.nih.gov] Clinical description Individuals with BSyn show proportionate growth retardation of prenatal onset and have a short stature (average adult height of 150 cm).[orpha.net] Bloom syndrome is characterized by prenatal onset growth restriction and short stature (average adult height of 150 cm).[hematology.blueprintgenetics.com]

  • Skeletal Dysplasia

    In an infant with prenatal-onset disproportionate short stature, joint laxity, and radiographic findings typical for DD compound-heterozygosity for a large intragenic deletion[ncbi.nlm.nih.gov] It is also important to obtain an accurate history as to the time of onset of short stature and whether it was present prenatally or not noticed until age 2 or 3 years.[nature.com] stature, dental issues, adult-onset hearing loss, normal to grey sclera Type II is perinatally lethal; progressively deforming type may be lethal COL2A1 Achondrogenesis type[arupconsult.com]

  • Coxa Valga

    stature of prenatal onset, very short adult height (less than 1 meter), hypodontia, midface hypoplasia, and mild intellectual disability.[ncbi.nlm.nih.gov] Anauxetic dysplasia 2 MedGen UID: 1384439 • Concept ID: C4479357 • Disease or Syndrome Anauxetic dysplasia is a spondyloepimetaphyseal dysplasia characterized by severe short[ncbi.nlm.nih.gov]

  • Isolated Congenital Sclerocornea

    We propose that the most consistent and reliable features of CHH are short stature of prenatal onset and ectodermal dysplasia, and suggest that the diagnosis of CHH be considered[profiles.stanford.edu]

  • Kyphoscoliosis

    However, prenatal disease onset has also been described.[mendelian.co] CAFFEY DISEASE Is also known as infantile cortical hyperostosis Related symptoms: Short stature Scoliosis Pain Fever Abnormality of the skeletal system SOURCES: OMIM MESH[mendelian.co]

  • Hereditary Hyperekplexia

    stature of prenatal onset, joint dislocations (knees, hips, radial heads), club feet, and limitation of range of motion that can involve all large joints.[amp.pharm.mssm.edu] […] of optic disc Left ventricular noncompaction 8 Spondyloepiphyseal dysplasia with congenital joint dislocations A spondyloepimetaphyseal dysplasia that is characterized by short[amp.pharm.mssm.edu]

  • Osteogenesis Imperfecta

    All three displayed a severely disturbed ossification of the skull and multiple fractures with prenatal onset.[ncbi.nlm.nih.gov] The 7-year-old boy had short stature and craniofacial malformations including macrocephaly, midface hypoplasia, micrognathia, frontal bossing, and down-slanting palpebral[ncbi.nlm.nih.gov]

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