Create issue ticket

96 Possible Causes for Congenital Joint Contractures - Knee Ankle Hip Elbow, Hypoplastic Pons

  • Congenital Muscular Dystrophy

    Magnetic resonance imaging of the brain at 3.5 years of age showed increased T2 signal from supratentorial and infratentorial white matter, a hypoplastic pons and subcortical[ncbi.nlm.nih.gov] Contractures (tightness) in the joints - the ankles, hips, knees and elbows - is also common. The contractures can sometimes be severe and affect several joints.[treat-nmd.eu] […] midbrain, vermian hypoplasia /- cephalocele Described features in general include: cobblestone brain myelination defects Z-shaped brainstem/hypoplastic vermis ventriculomegaly[radiopaedia.org]

  • Amish Lethal Microcephaly

    A new metabolic disorder characterized by severe congenital microcephaly, death within the first year, and severe 2-ketoglutaric aciduria has been found among the Old-Order Amish of Lancaster County, Pennsylvania. Amish lethal microcephaly segregates as an autosomal recessive disorder and has an unusually high[…][ncbi.nlm.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Muscular Dystrophy-Dystroglycanopathy Type B6

    Contractures (tightness) in the joints - the ankles, hips, knees and elbows - is also common. The contractures can sometimes be severe and affect several joints.[treat-nmd.eu] - callosal dysgenesis CMD 4 : Walker-Warburg syndrome , most severe , with cobblestone brain, massive ventriculomegaly with absent/abnormal callosum, no myelin, kinked pons[radiopaedia.org] Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au]

  • Horizontal Gaze Palsy with Progressive Scoliosis

    Brain MRI revealed a hypoplastic pons and medulla with a prominent midline cleft and an enlarged fourth ventricle (Fig. 2).[journals.lww.com] Brain MR imaging revealed a hypoplastic pons in which the posterior two-thirds were split into two halves by a midsagittal cleft extending ventrally from the fourth ventricular[ajnr.org] A hypoplastic pons in which the posterior two-thirds were split into two halves by a midsagittal cleft extending ventrally from the fourth ventricular floor, generating a[repository.countway.harvard.edu]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Connective Tissue Disease

    It is akin to Marfan syndrome but with contractures of hip, knee, elbows and ankle joint and crumpled ear.[en.wikipedia.org] Congenital contractural arachnodactyly – Also known as Beals syndrome.[en.wikipedia.org]

    Missing: Hypoplastic Pons
  • Kyphoscoliosis

    Brain imaging reveals coarse pachygyria, polymicrogyria, and dilated ventricles with hypoplastic corpus callosum and pons. Cerebellar hypoplasia was found in one child.[disorders.eyes.arizona.edu]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Brain Stem Disorder

    Cranial MR imaging will show a hypoplastic pons with a variably shaped exophytic band of white matter composed of abnormal transversely oriented axons coursing along its dorsal[ajnr.org] Two patients had features consistent with the recently described entity known as “pontine tegmental cap dysplasia,” which is characterized by a hypoplastic pons with an exophytic[ajnr.org] The vermis is also hypoplastic inferiorly. C, Axial T2-weighted image at the level of the MCPs in the same patient as A.[ajnr.org]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Hypomyelinating Leukodystrophy Type 5

    All the other patients had a moderately hypoplastic pons, associated with hyperintense corticospinal tracts in patient 6 and hyperintense transverse pontine fibers in patient[ajnr.org]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow
  • Arthrogryposis due to Muscular Dystrophy

    Contractures (tightness) in the joints – the ankles, hips, knees and elbows – are also common. The contractures are sometimes severe and affect several joints.[mda.org.au] Babies with congenital muscular dystrophy often appear “floppy” (this may also be described by doctors as having low muscle tone or hypotonia).[mda.org.au]

    Missing: Hypoplastic Pons
  • Polymicrogyria

    pons and cerebellar dysplasia are key features for the diagnosis of TUBA1A-related PMG.[ncbi.nlm.nih.gov] […] findings broaden the phenotypic spectrum associated with TUBA1A mutations to PMG and further emphasize that additional brain abnormalities, that is, dysmorphic basal ganglia, hypoplastic[ncbi.nlm.nih.gov]

    Missing: Congenital Joint Contractures - Knee Ankle Hip Elbow

Further symptoms