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5,288 Possible Causes for Disharmonic Maturation of Phalanges and Carpal Bones, Mental Retardation, Polydactyly

  • 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] Polydactyly postaxiale labial slit mediane Polydactyly postaxiale backwardness Polydactyly preaxiale Polydactyly preaxiale colobome backwardness small size Polydactyly (generic[wikipedia.qwika.com]

  • Patau Syndrome

    Survivors suffer from severe mental retardation and health problems all their lives.[symptoma.com] Patau syndrome has an incidence of 1/10.000-20.000, the clinical diagnosis being suggested by the triad cleft lip and palate, microphthalmia/anophthalmia and postaxial polydactyly[ncbi.nlm.nih.gov] Cleft lip/palate, micro- or anophthalmia, coloboma (even in the absence of major brain malformations), regions of occipital cutaneous aplasia, postaxial polydactyly, cardiac[orpha.net]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Laurence Moon Syndrome

    Laurence-Moon-Biedl syndrome [ law rens mo̳n be d'l ] a hereditary autosomal recessive syndrome characterized by obesity, hypogenitalism, retinitis pigmentosa, mental retardation[medical-dictionary.thefreedictionary.com] Figure 2: showing polydactyly in lower limbs Figure 3: showing polydactyly in left hand Figure 4: showing high arched palate.[medresearch.in] Lau·rence-Moon syn·drome ( law'rĕnts mūn ), [MIM*245800] disorder characterized by mental retardation, pigmentary retinopathy, hypogenitalism, and spastic paraplegia; autosomal[medical-dictionary.thefreedictionary.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • 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] , and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual disabilities[icd9data.com] Sotos syndrome - cerebral gigantism and generalized large muscles in childhood, with mental retardation and defective coordination.[medical-dictionary.thefreedictionary.com]

  • 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] , and intellectual disabilities) 759.89 Barth 759.89 basal cell nevus 759.89 Beckwith (-Wiedemann) 759.89 Biedl-Bardet (obesity, polydactyly, and intellectual disabilities[icd9data.com]

  • Smith Lemli Opitz Syndrome

    Smith-Lemli-Opitz syndrome, a syndrome of multiple malformations and mental retardation that for years was relegated to the atlases of genetic esoterica, was recently found[ncbi.nlm.nih.gov] It is known that both CHDs of heterotaxia and postaxial polydactyly can be related to abnormalities of the SHH pathway.[ncbi.nlm.nih.gov] It comprises a characteristic combination of facial features, malformations, and mental retardation.[ncbi.nlm.nih.gov]

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

    retardation.[ncbi.nlm.nih.gov] Major characteristics of the acrocallosal syndrome include severe mental retardation, agenesis or hypoplasia of the corpus callosum, and polydactyly of fingers and toes.[ncbi.nlm.nih.gov] […] degree cousins and their first pregnancy resulted in spontaneous abortion whereas the offspring of their second pregnancy was an anencephalic baby with bilateral post-axial polydactyly[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Pallister-Hall Syndrome

    Here, we describe a family with two affected children manifesting severe PHS with mental retardation, behavioral problems, and intractable seizures.[ncbi.nlm.nih.gov] Author information 1 Institute of Radiology, University Hospital Basel, Petersgraben 4, Basel, Switzerland. skos@gmx.de Abstract We present a preterm-born girl with polydactyly[ncbi.nlm.nih.gov] Polydactyly. Postaxial polydactyly may be more common than mesoaxial polydactyly in individuals with PHS.[ncbi.nlm.nih.gov]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Pallister W Syndrome

    Kuwait Farag et al. (1993) conducted a clinicogenetic assessment of 400 institutionalized mentally retarded (IQ less than 50) Kuwaiti patients during a 4-year period (1986[cags.org.ae] […] or postaxial polydactyly (Biesecker, 2010).[genedx.com] Interestingly these were three patients who also had mental retardation. 6 7 Except for a male with familial TBS, mental retardation, scoliosis, and spina bifida occulta 6[jmg.bmj.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones
  • Lenz-Majewski Syndrome

    Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[accessanesthesiology.mhmedical.com] […] comparison with other cases of short rib-polydactyl syndromes (SRPS) and other chondrodysplasias, this case was classified as Majewski's syndrome, even though there was no polydactyly[thieme-connect.com] The short-rib polydactyly syndromes (SRPS) have been divided into four types.[mhmedical.com]

    Missing: Disharmonic Maturation of Phalanges and Carpal Bones

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