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2,932 Possible Causes for Coxa Valga Deformity with Epiphyseal Dysplasia, Dwarfism, Mildly Short Limb

Did you mean: Coxa Valga Deformity with Epiphyseal Dysplasia, Dwarfism, Mildly, Short Limb

  • Osteogenesis Imperfecta

    Notice the disproportionate short-limb short stature.[doi.org] Clinical features include: at birth, infants generally have mildly shortened and bowed limbs, small chests, and a soft calvarium bones fracture easily; fractures are often[radiopaedia.org] It is the leading cause of lethal short-limbed dwarfism and skeletal dysplasia. Presentation Type I This accounts for 60% of all cases.[patient.info]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Mucopolysaccharidosis

    Mucopolysaccharidosis type IVA or Morquio syndrome A is a lysosomal storage disorder characterized by skeletal dysplasia due to excessive storage of keratan sulfate.[genedx.com] Clinical features include short trunk dwarfism, dysostosis multiplex, progressive spinal deformity, short neck, pectus carinatum, genu valgum, pes planus, and odontoid hypoplasia[icd9data.com] Symptoms may include DWARFISM, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Achondroplasia

    The most common types of dwarfism, known as skeletal dysplasias, are genetic.[webmd.com] extremities, a large head, and trident-shaped hands ( Emerson 1909 ).[medlink.com] The baby with achondroplasia has a relatively long, narrow torso (trunk) with short extremities (arms and legs) and a disproportionate shortening of the proximal (near the[medicinenet.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Shwachman Syndrome

    dysplasia, and short stature ( 1 ).[care.diabetesjournals.org] 138 Turner Syndrome 17 Hermaphroditism True 139 Von HippelLindau Disease 18 Hypophosphatasia 140 Weaver Syndrome 19 Kallmann Syndrome 141 WeillMarchesani Syndrome 20 Laron Dwarfism[books.google.com] Pancreatic exocrine and bone marrow dysfunctions are considered to be universal features of Shwachman-Diamond syndrome (SDS) whereas the associated skeletal dysplasia is variable[ncbi.nlm.nih.gov]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Mucopolysaccharidosis 1

    Mucopolysaccharidosis type IVA or Morquio syndrome A is a lysosomal storage disorder characterized by skeletal dysplasia due to excessive storage of keratan sulfate.[genedx.com] Symptoms may include dwarfism, hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[icd10data.com] Skeletal dysplasia is striking and although neonates may appear healthy, radiographic studies may reveal signs of dysostosis multiplex at birth.[symptoma.com]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Down Syndrome

    A father’s age has long been recognized as a factor in relatively rare genetic conditions like Klinefelter syndrome and achondroplasia, or dwarfism—but it’s only in the last[theatlantic.com] Hoogland, Osteological evidence of short-limbed dwarfism in a nineteenth century Dutch family: Achondroplasia or hypochondroplasia, International Journal of Paleopathology[doi.org] ., “Mutations in the Transmembrane Domain of FGFR3 Cause the Most Common Genetic Form of Dwarfism, Achondroplasia,” Cell, 78 ( 1994 ): 335 – 42.[doi.org]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Mucopolysaccharidosis 1H

    In 1919, while training in paediatrics, Hurler described a syndrome of corneal clouding, dwarfing skeletal dysplasia, spinal malalignment and mental retardation.[whonamedit.com] Hurler's syndrome [ hoor lerz ] the prototypical form of mucopolysaccharidosis , with a gargoyle-like face, dwarfism, severe somatic and skeletal changes, severe mental retardation[medical-dictionary.thefreedictionary.com] Symptoms may include DWARFISM , hepatosplenomegaly, gargoyle-like facies, corneal clouding, cardiac complications, and noisy breathing.[hon.ch]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Pseudohypoparathyroidism

    Pseudohypoparathyroidism is a condition associated primarily with resistance to the parathyroid hormone. Those with the condition have a low serum calcium and high phosphate, but the parathyroid hormone level (PTH) is appropriately high (due to the low level of calcium in the blood). Its pathogenesis has been linked[…][en.wikipedia.org]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Smith Lemli Opitz Syndrome

    […] syndrome with unusual brain and/or neuromuscular findings Multiple malformation syndrome, moderate short stature, facial Multiple malformation syndrome, small stature, without skeletal[icd9data.com] Among these are dwarfism, micrognathia, hard palate anomalies, hypotonia, anomalies of the external genitalia, polysyndactyly, microcephaly, and mental retardation.[disorders.eyes.arizona.edu] DYSPLASIA SYNDROME middle lobe syndrome Miles-Carpenter syndrome Milner Khallouf Gibson Syndrome Mirhosseini-Holmes-Walton Syndrome Mirizzi Syndrome Mitchell-Riley Syndrome[rgd.mcw.edu]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia
  • Pseudoachondroplasia

    PSACH has been considered a rhizomelic form of dwarfism. So far no previous report has described mesomelic shortening of the limbs in PSACH.[ncbi.nlm.nih.gov] He has a normal craniofacial appearance but a disproportionate body with normal trunk and short extremities with height below the 3rd percentile.[ncbi.nlm.nih.gov] Esra Döğer, Aysun Bideci, Öznur Boyunağa, Aylin Kılınç Uğurlu, Emine Demet Akbaş, Orhun Çamurdan & Peyami Cinaz Aim: Pseudoacondroplasia is a short extremity dwarfism characterized[abstracts.eurospe.org]

    Missing: Coxa Valga Deformity with Epiphyseal Dysplasia

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