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76 Possible Causes for Hyperextensible Joints, Severely Disproportionate Short Stature

  • Pseudoachondroplasia

    Shortened Limbs Short stubby fingers Waddling walk Joint pain (with age) Large range of joint movement (hyperextensibility) in hands, knees and ankles Limited range of motion[littlepeopleuk.org] Clinical evaluation revealed that PSACH patients in this pedigree had a severe disproportionate short stature (-10SD).[ncbi.nlm.nih.gov] ; an unusually large range of joint movement ( hyperextensibility ) in the hands, knees, and ankles; and a limited range of motion at the elbows and hips.[ghr.nlm.nih.gov]

  • Anauxetic Dysplasia

    Signs and symptoms [ edit ] Short limb dwarfism very fine thin light hairs and eyebrows hyperextensible joints of hand and feet abnormalities of spine neutropenia defective[en.wikipedia.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] joints of hand and feet Abnormalities of spine Neutropenia Defective antibody and cell mediated immunity Cartilage–hair hypoplasia ( CHH ), also known as McKusick type metaphyseal[en.wikipedia.org]

  • Hypochondroplasia

    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] Format Definition Autosomal dominant disease and is characterized by disproportionate short stature. It resembles achondroplasia, but with a less severe phenotype.[uniprot.org] Both conditions share the classical pathological features of micromelic short stature, reduced or unchanged interpedicular distances in the lumbar spine, disproportionately[ncbi.nlm.nih.gov]

  • Cartilage Hair Hypoplasia

    Short limb dwarfism very fine thin light hairs and eyebrows hyperextensible joints of hand and feet abnormalities of spine neutropenia defective antibody and cell mediated[en.wikipedia.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] disproportionate (short-limb) short stature that is usually recognized in the newborn, and occasionally prenatally because of the short extremities.[ncbi.nlm.nih.gov]

  • Growth Failure

    Secondary criteria include: Widow's peak hair pattern, ptosis, downward slanting palpebral fissures, joint hyperextensibility, broad feet with bulbous toes, cryptorchidism[cjhr.org] A distinctive autosomal recessive syndrome of severe disproportionate short stature with short long bones, brachydactyly, and hypotrichosis in two consanguineous arab families[advbiores.net]

  • Osteogenesis Imperfecta

    Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] Connective tissue abnormalities leading to joint hyperextensibility may result in dislocation of joints and the head of the radius.[doi.org] […] function, scoliosis, clinical signs of restrictive pulmonary disease, aortic or mitral valve murmurs, and hyperextensible joints (which occur frequently although to a lesser[clinicaladvisor.com]

  • Skeletal Dysplasia

    hyperextensibility, particularly in the hands, knees, and ankles Mild myopathy reported for some individuals Restricted extension at the elbows and hips Valgus, varus, or[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Kyphoscoliosis

    They are generally characterized by joint hypermobility (joints that stretch further than normal), skin hyperextensibility (skin that can be stretched further than normal)[ehlers-danlos.com] short-limb short stature Hydrops fetalis Short palm Enlargement of the proximal femoral epiphysis Decreased cervical spine mobility Osteopenia Sloping forehead Skeletal dysplasia[mendelian.co] However, many people without EDS have loose joints, and having joint hypermobility does not mean that person has a medical disorder.[forgottendiseases.org]

  • Chondrodystrophy

    hyperextensibility, particularly in the hands, knees, and ankles Mild myopathy reported for some individuals Restricted extension at the elbows and hips Valgus, varus, or[ncbi.nlm.nih.gov] Pseudoachondroplasia usually manifests in the 2 nd year of life with ligamentous laxity and tends to develop severe disproportionate short stature.[doi.org] It’s distinguished by a moderate to severe form of disproportionate short-limb short stature.[en.wikipedia.org]

  • Platyspondyly

    joints, varicosities, and multiple skeletal abnormalities.[findzebra.com] […] femoral neck Brachydactyly Lumbar hyperlordosis Spondylometaphyseal dysplasia Barrel-shaped chest Osteoarthritis Coxa vara Severe short stature Rare Symptoms - Less than[mendelian.co] C0268353 • Congenital Abnormality Occipital horn syndrome is a rare connective tissue disorder characterized by hyperelastic and bruisable skin, hernias, bladder diverticula, hyperextensible[ncbi.nlm.nih.gov]

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