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1,741 Possible Causes for 3rd-4th Toe Clinodactyly, Metaphyseal Fraying, Mild to Severe Mental Retardation

Did you mean: 3rd-4th Toe Clinodactyly, Metaphyseal Fraying, Mild to, Severe Mental Retardation

  • Schneckenbecken Dysplasia

    […] and 4th fingers with synostoses of the corresponding metacarpals and associated single phalanges, syndactyly of the 2nd and 3rd toes and 5th finger clinodactyly.[amp.pharm.mssm.edu] […] cupping and fraying of tubular bones have also been observed in Jansen metaphyseal dysplasia (OMIM 156400), which differs by the presence of splayed rib ends and normal alkaline[journals.lww.com] Hyperparathyroidism, neonatal severe Mental retardation, autosomal dominant 28 Sensory ataxic neuropathy, dysarthria, and ophthalmoparesis X-Linked mental retardation 90 Mental[amp.pharm.mssm.edu]

  • Spondyloepimetaphyseal Dysplasia Type SPONASTRIME

    Abstract We report a child with short stature, osteopenia with metaphyseal striations and severe mental retardation.[ncbi.nlm.nih.gov] The two patients showed severe mental retardation. The pattern of inheritance of this rare dysplasia is discussed.[ncbi.nlm.nih.gov] Signs / Symptoms (34) General A subgroup of patients with sponastrime dysplasia have severe mental retardation Name sponastrime spo (spondylo), nas (nasal), strime (striated[datagenno.com]

    Missing: 3rd-4th Toe Clinodactyly
  • Mohr Syndrome

    retardation, which is usually mild Depends in part on brain abnormalities, but not always consistent Severe mental retardation in the absence of brain malformations appears[en.wikibooks.org] Vertebral anomalies, epibulbar epidermoids, mental retardation, and numerous other anomalies are frequently associated.[icd10data.com] […] fewer than 50% age of onset most often adulthood (but have been described in children) Intellect [ edit ] As many as half of the individuals with OFD1 have some degree of mental[en.wikibooks.org]

    Missing: 3rd-4th Toe Clinodactyly
  • X-Linked Hypophosphatemia

    Diagnostic methods Diagnosis is based on clinical and biochemical findings, and typical rickets/osteomalacia radiographic feautures (in children: fraying and cupping of metaphyseal[orpha.net]

    Missing: 3rd-4th Toe Clinodactyly Mild to Severe Mental Retardation
  • Hereditary Hypophosphatemic Rickets with Hypercalciuria

    Published Journal Article CONTEXT: Hereditary hypophosphatemic rickets with hypercalciuria (HHRH) is a rare metabolic disorder, characterized by hypophosphatemia and rickets/osteomalacia with increased serum 1,25-dihydroxyvitamin D [1,25-(OH)(2)D] resulting in hypercalciuria. OBJECTIVE: Our objective was to determine[…][scholars.duke.edu]

    Missing: 3rd-4th Toe Clinodactyly Mild to Severe Mental Retardation
  • Profound Mental Retardation

    Based on twin studies, moderate to severe mental retardation does not appear to be familial, but mild mental retardation does.[iq-tests.eu] This section describes the health states of individuals living with mild, moderate, or severe mental retardation.[www150.statcan.gc.ca] Mild to severe mental retardation is a symptom of several hundred single-gene disorders and many chromosomal abnormalities, including small deletions.[iq-tests.eu]

    Missing: 3rd-4th Toe Clinodactyly Metaphyseal Fraying
  • X-Linked Spondyloepimetaphyseal Dysplasia

    Am J Hum Genet. 2016 Jun 2;98(6):1243-1248. doi: 10.1016/j.ajhg.2016.04.004. Epub 2016 May 26. Cho SY 1 , Bae JS 2 , Kim NKD 3 , Forzano F 4 , Girisha KM 5 , Baldo C 6 , Faravelli F 4 , Cho TJ 7 , Kim D 8 , Lee KY 8 , Ikegawa S 9 , Shim JS 10 , Ko AR 11 , Miyake N 12 , Nishimura G 13 , Superti-Furga A 14 , Spranger J 15 , Kim[…][ncbi.nlm.nih.gov]

    Missing: 3rd-4th Toe Clinodactyly Mild to Severe Mental Retardation
  • Rhizomelic Chondrodysplasia Punctata Type 1

    Diaphyseal thickening with metaphyseal splaying and fraying were noted. Bilateral acetabular erosion was present.[jcnonweb.com] mental retardation with spasticity.[uniprot.org] […] broad nasal bridge, epicanthus, high-arched palate, dysplastic external ears, and micrognathia, congenital contractures, characteristic ocular involvement, dwarfism, and severe[diseaseinfosearch.org]

    Missing: 3rd-4th Toe Clinodactyly
  • Mental Retardation

    Based on twin studies, moderate to severe mental retardation does not appear to be familial, but mild mental retardation does.[iq-tests.eu] This section describes the health states of individuals living with mild, moderate, or severe mental retardation.[www150.statcan.gc.ca] Mild to severe mental retardation is a symptom of several hundred single-gene disorders and many chromosomal abnormalities, including small deletions.[iq-tests.eu]

    Missing: 3rd-4th Toe Clinodactyly Metaphyseal Fraying
  • Sialic Acid Storage Disease, Infantile Form

    Individuals with Salla disease usually survive into adulthood but with severe mental retardation.[tellmegen.com] mental retardation with a wide clinical variation [6].[wikigenes.org] […] evaluate the degree of possible peripheral nervous system (PNS) involvement in addition to CNS manifestations in Salla disease, a free sialic acid storage disorder leading to severe[wikigenes.org]

    Missing: 3rd-4th Toe Clinodactyly