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141 Possible Causes for Brachydactyly, Severely Disproportionate Short Stature

  • Anauxetic Dysplasia

    finger ; Short neck ; Short toe ; Small epiphyses Associated Genes RMRP (Withdrawn symbols: CHH, NME1, RMRPR, RRP2 ) Mouse Orthologs Rmrp (Withdrawn symbols: Rmrpr ) Source[mousephenotype.org] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] […] morbidity, and the radiological changes include modification of the vertebral bodies and epiphyseal dysplasia of the hip, as well as generalized metaphyseal dysplasia and severe brachydactyly[ncbi.nlm.nih.gov]

  • Pseudoachondroplasia

    A 2.75-year-old Chinese boy presented with typical clinical features of pseudoachondroplasia, including disproportionate short-limb short stature, brachydactyly, genu varus[ncbi.nlm.nih.gov] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] Beside visibly short forearms, short, broad and ulnar deviation of the hands, brachydactyly and joint hyperlaxity, the radiographic picture showed markedly flared metaphyses[ncbi.nlm.nih.gov]

  • Spondyloperipheral Dysplasia

    […] mild platyspondyly with posterior scalloping, small flared ilia with shallow acetabulae, mesomelic shortening of long bones, marked delay of carpal bone maturation, and brachydactyly[ncbi.nlm.nih.gov] […] by severe disproportionate short stature of prenatal onset.[emedicine.medscape.com] This condition is characterized by flattened bones of the spine (platyspondyly) and unusually short fingers and toes (brachydactyly), with the exception of the first (big)[malacards.org]

  • Hypochondroplasia

    The following are characteristics consistent with this condition: Brachydactyly Short stature Micromelia Skeletal dysplasia Abnormality of femur Hypochondroplasia is transmitted[en.wikipedia.org] Children with the common C1620A mutation met all of the criteria for the diagnosis of Hch with a severe phenotype that resembled achondroplasia and disproportionate short[ncbi.nlm.nih.gov] After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly.[ncbi.nlm.nih.gov]

  • Achondroplasia

    […] displacement of the midface and depressed nasal bridge Shortening of the arms with redundant skin folds on limbs Limitation of elbow extension Shortened fingers and toes (brachydactyly[rarediseases.org] Achondroplasia is the most common condition associated with severe disproportionate short stature. 4 The diagnosis can usually be made on the basis of clinical characteristics[pediatrics.aappublications.org] Small joint hypermobility and short fingers can affect fine motor development and delay self-feeding [ Ireland et al 2012 ].[ncbi.nlm.nih.gov]

  • Platyspondyly

    Diseases related with Brachydactyly and Platyspondyly In the following list you will find some of the most common rare diseases related to Brachydactyly and Platyspondyly[mendelian.co] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[sajr.org.za]

  • Geleophysic Dysplasia

    Geleophysic dysplasia is a rare skeletal dysplasia characterised by 'happy natured' facies, short stature with short limbs, brachydactyly, and joint contractures.[ncbi.nlm.nih.gov] Geleophysic dysplasia is a rare, autosomal recessive disorder which causes disproportionate short stature associated with severe physical handicaps, but is compatible with[ncbi.nlm.nih.gov] Geleophysic dysplasia is characterized by short stature with short limbs and brachydactyly, a "happy" facial appearance, and joint contractures.[ncbi.nlm.nih.gov]

  • Distal Symphalangism

    finger 60 Occasional (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954[malacards.org] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[mendelian.co] finger 59 Occasional (29-5%) 20 tall stature 32 HP:0000098 21 short 1st metacarpal 32 HP:0010034 22 broad foot 32 HP:0001769 23 single transverse palmar crease 32 HP:0000954[malacards.org]

  • Cartilage Hair Hypoplasia

    The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers.[analesdepediatria.org] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[ncbi.nlm.nih.gov] Physical examination showed a height of 62 cm ( 9.6 SD), weight of 8620 g ( 3.34 SD), shortening of upper and lower extremities, thick hands and short fingers.[analesdepediatria.org]

  • Prata-Libéral-Gonçalves Syndrome

    […] term characterized by disproportionately short fingers and toes.[familydiagnosis.com] […] metacarpal Waddling gait Short neck Short femoral neck Joint laxity Abnormal joint morphology Disproportionate short-trunk short stature Enlarged joints Autosomal recessive[mendelian.co] Brachydactyly - scoliosis - carpal fusion: A rare genetic disorder characterized by short fingers and toes, scoliosis (curved spine) and fused hand bones.[checkorphan.org]

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