Create issue ticket

176 Possible Causes for Rhizomelic Shortening

  • Rhizomelic Chondrodysplasia Punctata Type 1

    AB - Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones.[jhu.pure.elsevier.com] It is characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus, vertebral disorders, dwarfism, cataract, cutaneous lesions[uniprot.org] rhizomelic shortening of the long bones.[link.springer.com]

  • Rhizomelic Chondrodysplasia Punctata Type 2

    […] chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[karger.com] Definition A form of rhizomelic chondrodysplasia punctata, a disease characterized by severely disturbed endochondral bone formation, rhizomelic shortening of femur and humerus[uniprot.org] However, a milder phenotype has been reported in some patients that lack rhizomelic shortening and resemble an adult refsum phenotype.[invitae.com]

  • Chondrodysplasia Punctata

    Antenatal sonographic diagnosis of rhizomelic chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[ncbi.nlm.nih.gov] Abstract We report Rhizomelic Chondrodysplasia Punctata (RDCP), a rare, autosomal recessive disorder with rhizomelic shortening of limbs, congenital cataracts and seizures[ncbi.nlm.nih.gov] Prenatal US had shown severe thoracic hypoplasia and rhizomelic shortening of the limbs, raising the suspicion of thanatophoric dysplasia.[ncbi.nlm.nih.gov]

  • Achondroplasia

    The shortening of the limb lengths in achondroplasia is widely described as "rhizomelic."[ncbi.nlm.nih.gov] shortening of the limbs.[ncbi.nlm.nih.gov] The major clinical outcome of Achondroplasia is attenuated growth, rhizomelic shortening of the long bones and craniofacial abnormalities.[dx.doi.org]

  • Rhizomelic Chondrodysplasia Punctata Type 3

    […] chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[karger.com] Rhizomelic Chondrodysplasia Punctata • Disorder of peroxismal import • Clinical Features : Flat nasal bridge Rhizomelic shortening (humerus femur) Postnatal growth deficiency[slideshare.net] Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive peroxisomal disorder characterized by disproportionate short stature with rhizomelic limb shortening,[ctgt.net]

  • Pseudoachondroplasia

    As the growth rate slows, the trunk appears long with lumbar lordosis and rhizomelic shortening of the limbs. Final adult height is 80-130cm.[web.archive.org] shortening of the extremities is evident; - dwarfism can easily be differentiated from achondroplasia by the normal face and skull, and the absence of interpedicular narrowing[wheelessonline.com] There is rhizomelic shortening of the extremities associated with characteristic short, stubby fingers and incomplete extension of the elbow.[web.archive.org]

  • Hypochondroplasia

    Hypochondroplasia is an autosomal dominant skeletal dysplasia expressing postnatal onset of short stature with mild rhizomelic shortening of the limbs.[ncbi.nlm.nih.gov] Hypochondroplasia is characterized by a disproportionate short stature with rhizomelic shortening of the limbs.[ncbi.nlm.nih.gov] Doctor's response Hypochondroplasia is a type of short-limb dwarfism with shortening especially of the ends of the limbs (termed rhizomelic dwarfism).[medicinenet.com]

  • Skeletal Dysplasia

    Abstract A girl with severe pre- and post-natal short stature, low-pitched voice, retinitis pigmentosa, photophobia, short neck, broad thorax, platyspondyly, rhizomelic shortening[ncbi.nlm.nih.gov] Their mother has mild rhizomelic shortening of the limbs, brachydactyly, and severe myopia.[ncbi.nlm.nih.gov] Abstract We report on two sibs with a lethal form of bone dysplasia with distinctive skeletal findings including rhizomelic and mesomelic limb shortening, hooked clavicles[ncbi.nlm.nih.gov]

  • Autosomal Dominant Chondrodysplasia Punctata

    […] chondrodysplasia punctata depends on recognization of the combination of rhizomelic bone shortening and epiphyseal stippling.[karger.com] shortening of the limbs, joint contractures, congenital cataracts, ichthyosis, and mental retardation.[encyclo.co.uk] There are two types of the anomaly: a benign Conradi-Hünermann form marked by mild asymmetric limb shortening and a lethal rhizomelic form with marked proximal limb shortening[medical-dictionary.thefreedictionary.com]

  • Weissenbacher-Zweymuller Syndrome

    shortening of the limbs, metaphyseal widening, vertebral coronal clefts and retrognathia.[semanticscholar.org] Abstract This report describes a patient with a form of chondrodysplasia characterised by a rhizomelic shortening of the limbs, metaphyseal widening, vertebral coronal clefts[link.springer.com] 1 author Carlos Alberto Published 1977 in Pediatric Radiology DOI: 10.1007/BF00973533 This report describes a patient with a form of chondrodysplasia characterised by a rhizomelic[semanticscholar.org]

Further symptoms

Similar symptoms