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5,125 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Mental Retardation, Psychomotor Development Profoundly Delayed

  • 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] It is extremely rare and typically causes dwarfism, mental retardation, intrauterine growth retardation and microcephaly.[symptoma.com] The syndrome is characterized by severe intrauterine and postnatal growth retardation with proportional dwarfism, typical beak-like triangular nose, and mental retardation[ncbi.nlm.nih.gov]

  • Sotos Syndrome

    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] Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.[medical-dictionary.thefreedictionary.com] Sotos syndrome is a genetic disorder characterized by early and excessive growth, acromegalic features, mental retardation, advanced bone age, and a distinctive facial appearance[ncbi.nlm.nih.gov]

    Missing: Psychomotor Development Profoundly Delayed
  • Amish Lethal Microcephaly

    delayed psychomotor development, brain malformations, and episodic encephalopathy associated with lactic acidosis, alpha-ketoglutaric aciduria and death within the first[medical-dictionary.thefreedictionary.com] retardation-hypotonic facies syndrome; ATRX-Alpha-thalassemia/mental retardation syndrome ATMDS-Alpha-thalassemia myelodysplasia syndrome, somatic; MICPCH-Mental retardation[centogene.com] Get Update Overview Amish type microcephaly is a severe autosomal recessive metabolic disorder characterized by severe microcephaly apparent at birth, profoundly delayed psychomotor[diseaseinfosearch.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Hyperphosphatasia-Intellectual Disability Syndrome 1

    (OMIM phenotype number #239300 ) Hyperphosphatasia with mental retardation syndrome (HPMRS), also called "Mabry syndrome", is a rare autosomal recessive form of intellectual[iofbonehealth.org] It is characterized by a cluster of irreversible BIRTH DEFECTS including abnormalities in physical, mental, and behavior development (such as FETAL GROWTH RETARDATION; MENTAL[bioportfolio.com] Hyperphosphatasia with mental retardation syndrome Other names image_size 240px This condition is inherited in an autosomal recessive manner Hyperphosphatasia with mental[en.wikipedia.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • 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] retardation, and major bony deformities.[doi.org] Overview A very rare disorder characterized by excessive pigmentation, looks skin, unusual face, several mental retardation and bone abnormalities.[checkorphan.org]

    Missing: Psychomotor Development Profoundly Delayed
  • Early Infantile Epileptic Encephalopathy Type 28

    7 MRD7 614104 Genetic Test Registry Mental Retardation, Autosomal Dominant 8 MRD8 614254 Genetic Test Registry Mental Retardation, X-Linked 1 Mental Retardation, X-Linked[ukgtn.nhs.uk] retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH) Mental retardation, CASK-related, X-linked Mental retardation, autosomal dominant 5 (MRD5) Myoclonic[ncbi.nlm.nih.gov] retardation; early infantile epileptic encephalopathy 1; Partington X-Linked Mental Retardation Syndrome XL, XLR 7 CACNA1A 601011 episodic ataxia type 2; familial hemiplegic[centogene.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Impacted Cerumen

    Moreover, a strong propensity for recurrent cerumen impaction in the mentally retarded population was found.[ncbi.nlm.nih.gov] Abstract The incidence of occlusion of the external auditory canal due to impacted cerumen was determined for 44 mentally retarded subjects in comparison with 44 nonretarded[ncbi.nlm.nih.gov] Impacted cerumen is a major cause of primary care consultation, and a common comorbidity in ENT patients, the elderly, infirm and people with mental retardation.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Psychomotor Development Profoundly Delayed
  • Klinefelter Syndrome

    This is the first description of KS, mosaicism (46,XY/47,XXY), associated with AN and mental retardation.[ncbi.nlm.nih.gov] Author information 1 Oasi Institute (IRCCS) for Research on Mental Retardation and Brain Aging, Troina, Italy. micezia@tiscali.it, msalemi@oasi.en.it. 2 Section of Endocrinology[ncbi.nlm.nih.gov] Three main clinical signs should suggest the diagnosis in a child: small testes, tall stature, and mental retardation or learning problems.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Psychomotor Development Profoundly Delayed
  • Duchenne Muscular Dystrophy

    Some patients also have mild mental retardation. As DMD progresses, a wheelchair may be needed.[medterms.com] Because of a mild mental retardation, a chromosome analysis and molecular karyotyping were performed, revealing a balanced translocation t(X;4)(p21;q31).arr(1-22,X)x2 dn with[ncbi.nlm.nih.gov] The proband had bilateral DRS with otherwise normal ocular motility; he also had developmental delay, mild mental retardation, and seizures.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Psychomotor Development Profoundly Delayed
  • Patau Syndrome

    Survivors suffer from severe mental retardation and health problems all their lives.[symptoma.com] retardation may complicate survival Please rate topic.[medbullets.com] Overview Patau syndrome or Trisomy 13 is a rare and very severe chromosome disorder leading to mental retardation and physical defects.[checkorphan.org]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones Psychomotor Development Profoundly Delayed

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