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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    finger ; Short neck ; Short toe ; Small epiphyses Associated Genes RMRP (Withdrawn symbols: CHH, NME1, RMRPR, RRP2 ) Mouse Orthologs Rmrp (Withdrawn symbols: Rmrpr ) Source[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] […] 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[]

  • Pseudoachondroplasia

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

  • 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[] […] by severe disproportionate short stature of prenatal onset.[] 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)[]

  • Hypochondroplasia

    The following are characteristics consistent with this condition: Brachydactyly Short stature Micromelia Skeletal dysplasia Abnormality of femur Hypochondroplasia is transmitted[] 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[] After delivery, the fetus had short limbs, a narrow thorax, brachydactyly, and relative macrocephaly.[]

  • 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[] 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[] Small joint hypermobility and short fingers can affect fine motor development and delay self-feeding [ Ireland et al 2012 ].[]

  • 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[] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[] Pseudoachondroplasia (OMIM 177170) is an autosomal dominant skeletal dysplasia that results in disproportionately (micromelic) short stature, severe brachydactyly with strikingly[]

  • Geleophysic Dysplasia

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

  • 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[] There was severe disproportionate short stature, with a final height of less than 100 cm; scoliosis was usually mild.[] 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[]

  • Cartilage Hair Hypoplasia

    The physical examination revealed sparse, fine and brittle hair, shortened limbs, moderate varus bowing of the femurs, and short fingers.[] Suggestive Findings CHH-AD spectrum disorders should be suspected in individuals with: Mild to severe disproportionate short-limbed short stature (final adult height Presence[] 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.[]

  • Prata-Libéral-Gonçalves Syndrome

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

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