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4,136 Possible Causes for Short Arm

  • Achondroplasia

    Short arms and legs, with particularly short upper arms and thighs. An enlarged head (macrocephaly), with a prominent forehead. Fingers that are typically short.[bones.emedtv.com] Short stature Short arms and legs (particularly short upper arms and thighs) Limited range of movement in elbows Trident hand (i.e. ring finger and middle finger may diverge[littlepeopleuk.org] This causes a series of signs, such as short arms and legs and a large head. This condition used to be called dwarfism.[urmc.rochester.edu]

  • Pseudoachondroplasia

    The disease genes in families with PSACH and MED have been localized to an 800 kilobase interval on the short arm of chromosome 19.[ncbi.nlm.nih.gov] This process is due to mutations in the gene cause COMP, located on the short arm of chromosome 19 (19p13.1).[ivami.com] Symptoms of pseudoachondroplasia include short arms and legs that do not become apparent until the child is age 3 to 5, bowed legs, scoliosis (curved spine), joint pain, limited[nicklauschildrens.org]

  • Hypochondroplasia

    We report a child who presented with short stature, a relatively long trunk, short legs, short arm span, radiographic evidence of HCP and mild mental retardation.[ncbi.nlm.nih.gov] Hypochondroplasia is a skeletal dysplasia characterized by short stature; stocky build; disproportionately short arms and legs; broad, short hands and feet; mild joint laxity[ncbi.nlm.nih.gov] Abstract Hypochondroplasia (HCH) is a skeletal dysplasia characterized by short stature with disproportionately short arms and legs.[ncbi.nlm.nih.gov]

  • Cartilage Hair Hypoplasia

    We have previously mapped the gene for CHH to the short arm of chromosome 9 in Finnish and Amish families.[ncbi.nlm.nih.gov] arms and legs (short-limbed dwarfism), increased joint mobility (hypermobility), and fine silky hair.[rarediseases.org] The locus of the gene has been mapped to the short arm of chromosome 9. Patients with CHH usually suffer from cellular immunodeficiency.[en.wikipedia.org]

  • Chromosome 18p Deletion Syndrome

    Summary Deletion of the short arm of chromosome 18 produces a highly variable phenotype.[link.springer.com] arm of chromosome 18.[karger.com] Deletion of short arm of chromosome 18, Del(18p) syndrome.[jisppd.com]

  • Wolf Hirschhorn Syndrome

    Deletion of short arm of the chromosome 4 in a patient with Wolf-Hirschhorn syndrome.jpg 132 163; 2 KB Mia - whs.jpg 1 360 2 048; 295 KB Pitt-rogers-danks syndrome.jpg 1 200[commons.wikimedia.org] To present the prenatal diagnosis of a de novo terminal inversion duplication of the short arm of chromosome 4 and a review of the literature.[ncbi.nlm.nih.gov] Its cause is a deletion in the short arm of chromosome 4.[ncbi.nlm.nih.gov]

  • Pallister-Killian Syndrome

    arm of chromosome 12.[ncbi.nlm.nih.gov] Pallister-Killian syndrome is characterized by tetrasomy of the short arm of chromosome 12p, which produces mental retardation of varying degrees and dysmorphic characteristics[ncbi.nlm.nih.gov] arm of chromosome 12 Controllo di autorità Q1425018 Reasonator Scholia Statistica[commons.wikimedia.org]

  • Cri Du Chat Syndrome

    It is caused by a deletion of the short arm of chromosome 5 (5p-) Deletion of the short arm of chromosome 5 characterized by a variable clinical picture consisting of severe[icd9data.com] The translocated Y euchromatin comprised only the distal short arm including the pseudoautosomal region and the so-called deletion intervals 1 and 2.[ncbi.nlm.nih.gov] Abstract Cri-du-chat is a chromosomal deletion syndrome characterized by partial deletion of the short arm of chromosome 5.[ncbi.nlm.nih.gov]

  • Monosomy 1p36 Syndrome

    Cytogenetic analysis identified 1p36.33-pter deletion ( 139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication.[ncbi.nlm.nih.gov] It precisely affects the area on the #1 chromosome that is on a short arm of the chromosome (p means the short arm above the centromere that joins the two parental copies[medicinenet.com] 1p36 Deletion Syndrome (pronounced one P three six) is a genetic condition in which a small amount of genetic material is missing (deleted) at the tip of the short arm of[1p36.co.uk]

  • Trisomy 4p

    Trisomy of the short arm of chromosome 4 is a well-known syndrome, and several observations have been made in the last 30 years.[ncbi.nlm.nih.gov] We report here a second case of a de novo chromosome 4 whole arm translocation with short-arm isochromosome formation, which we have delineated further by FISH studies.[ncbi.nlm.nih.gov] Partial trisomy of the short arm of chromosome 4 is considered to be a rare chromosomal disorder.[ncbi.nlm.nih.gov]

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