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6,023 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Large Feet, Mental Retardation

  • Sotos Syndrome

    feet Hypertelorism Hypotonia Gum abscesses Unusually large body Delay in developmental milestones Epilepsy Advance teeth development Missing Teeth Weak Enamel Poor alignment[syndromespedia.com] Abstract MLPA analysis for a panel of syndromes with mental retardation (MRS-MLPA) was used for investigation of 258 mentally retarded and dysmorphic patients with normal[ncbi.nlm.nih.gov] During follow up, the facies of Sotos syndrome was noted (fig 5 ) and the hands and feet were large with deep creases in the soles of the feet (fig 6 ).[jmg.bmj.com]

  • Patterson Pseudoleprechaunism Syndrome

    […] age; [Limbs]; Joint laxity; Genu valgum; Long arm span; [Hands]; Large hands; Disharmonic maturation of phalanges and carpal bones; [Feet]; Pes planus; Large feet SKIN, NAILS[findzebra.com] Symptoms - Patterson pseudoleprechaunism syndrome * Large hands * Large feet * Large nose * Large ears * Loose skin * Bronze skin pigmentation * Thick hair * Mental retardation[checkorphan.org] retardation, and major bony deformities.[doi.org]

  • Generalized Lipodystrophy

    Affected individuals tend to have prominent bones above the eyes ( orbital ridges ), large hands and feet, and a prominent belly button (umbilicus).[ghr.nlm.nih.gov] However, patients with BSCL2 mutations had lower serum leptin levels, an earlier onset of diabetes, and higher prevalence of mild mental retardation compared with other subtypes[ncbi.nlm.nih.gov] Continued Adults with CGL have large hands and feet and a strong, square jawbone because their hormone balance is off and they keep growing.[webmd.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Cockayne Syndrome

    Main characteristics are dwarfism with disproportionately long extremities and large hands and feet, kyphosis, cold blue extremities, beak-like nose giving the patient a prematurely[whonamedit.com] Cockayne syndrome is a rare autosomal recessive condition producing a dwarfed, mentally retarded infant or child.[ncbi.nlm.nih.gov] The arms and legs are disproportionately long with large hands and feet and flexion contractures of joints. The children burn after even minimal sun exposure.[medicinenet.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Lipodystrophy

    Adults may have large hands and feet and a strong, square jawbone if their hormone balance is off and they've kept growing.[webmd.com] Other uncommon manifestations include hypertrophic cardiomyopathy, mild mental retardation, and focal lytic lesions in the appendicular bones after puberty [ 41, 42 ].[intechopen.com] She could have a large liver or spleen. APL. This type affects just the upper body, on both sides.[webmd.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Donohue Syndrome

    […] hands large hand 0001176 Long foot Disproportionately large feet large feet long feet [ more ] 0001833 Low-set ears Low set ears Lowset ears [ more ] 0000369 Nail dysplasia[rarediseases.info.nih.gov] , severe mental retardation with possibly a progressive dementia and evidence of peripheral polyneuropathy.[karger.com] Other abnormalities that have been observed in infants with leprechaunism include recurrent infections, abnormalities of the intellect and unusually large hands and feet.[symptoma.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Profound Mental Retardation

    , deformities of the hands or feet, and seizures. 121 Mental retardation is a permanent condition, however the majority of individuals with mental retardation can receive[www150.statcan.gc.ca] PROFOUND MENTAL RETARDATION: "After examination, it was apparent that Paula should be diagnosed with Profound Mental Retardation."[psychologydictionary.org] Mental Retardation Definition Mental retardation is a developmental disability that first appears in children under the age of 18.[medical-dictionary.thefreedictionary.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Alpha-Mannosidosis

    All patients showed mental retardation and hearing loss from early childhood.[ncbi.nlm.nih.gov] Human alpha-mannosidosis is a lysosomal storage disorder characterized by mental retardation, dysostosis multiplex, and hepatosplenomegaly.[ncbi.nlm.nih.gov] Clinical symptoms include coarse facial features, skeletal involvement (dysostosis multiplex), hearing disabilities, mental retardation and hepatosplenomegaly.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Seckel Syndrome

    ; (3) marked disharmonic bone maturation between carpals and phalanges, between individual carpals, and from side to side; (4) alteration in the length of the hand bones,[ncbi.nlm.nih.gov] Flat foot [ more ] 0001763 Postnatal growth retardation Growth delay as children 0008897 Prominent nose Big nose Disproportionately large nose Increased nasal size Increased[rarediseases.info.nih.gov] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com]

  • Mulibrey Nanism Syndrome

    Symptoms - Mulibrey Nanism syndrome * Fetal growth retardation * Low birth weight * Short stature * Large hands * Large feet * Long head * J-shaped sella turcia * Triangular[checkorphan.org] Mental retardation, X-linked, 21/34; 300143; IL1RAPL1 Mental retardation, X-linked; 300495; NLGN4 Mental retardation, X-linked, FRAXE type; 309548; AFF2 Mental retardation[howlingpixel.com] References Gastrointestinal Hepatomegaly Growth Adult height ranges from 136 to 161 cm for males and from 126 to 151 cm for females Delayed puberty Hands and feet appear relatively[datagenno.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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