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268 Possible Causes for Hypoplastic Phalanges, Mental Retardation

  • Patau Syndrome

    […] terminal phalanges.[] Survivors suffer from severe mental retardation and health problems all their lives.[] It leads to a variety of abnormalities that include mental retardation, microcephaly, low-set ears, eye structural defects, polydactyly, and limb abnormalities The presence[]

  • Gorlin-Chaudhry-Moss Syndrome

    Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly , absent flexion crease of the thumbs, single transverse palmar creases[] Our patient's more severe mental retardation may be secondary to deletion of other genes on 9q.[] […] distal phalanges with hypoplastic nails, a widely open anterior fontanel, facial dysmorphisms, and craniosynostosis.[]

  • Smith Lemli Opitz Syndrome

    Less common findings include hypoplastic or short thumbs and thenar hypoplasia.[] 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[] It comprises a characteristic combination of facial features, malformations, and mental retardation.[]

  • Pallister W Syndrome

    The distal phalanges of the hands were short with hypoplastic fingernails.[] 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[] Case Report 72: Mental retardation, unusual facial appearance, abnormal hair Synd Ident 1981 7 : 6–7 3 Schaefer GB, Jochar A, Muneer R, Sanger WG.[]

  • Wolf Hirschhorn Syndrome

    The hands are wide and short with phalanges of diminishing width, dermatoglyphics are not characteristic.[] The phenotype of adult with WHS is in general similar to that of childhood being facial dysmorphism, growth retardation and mental retardation the rule in both adults and[] Chromosomal abnormalities are important cause of mental retardation and congenital anomalies.[]

  • Coffin-Lowry Syndrome

    Cardinal features are intellectual disability, coarse facial features, hypertrichosis, and hypoplastic or absent fifth digit nails or phalanges.[] In two families, the clinical diagnosis had been nonsyndromic X-linked mental retardation.[] In one family, a missense mutation was associated solely with mild mental retardation and no other clinical feature.[]

  • Fetal Warfarin Syndrome

    References Cardiovascular Cardiovascular abnormalities Limbs Abnormality Hypoplastic distal phalanges that are shaped like inverted triangles with the apices pointing proximally[] Whereas hypoplastic distal phalanges that are shaped like inverted triangles with the apices pointing proximally are seen in the limbs.[] These defects contribute to the appearance of significant mental retardation in 31% of fetal warfarin syndrome cases.[]

  • Lenz-Majewski Syndrome

    […] or aplastic middle phalanges, mental retardation, and other defects.[] The disorder is characterized by failure to thrive and mental retardation.[] Characterized by multiple congenital anomalies (delayed closure of fontanel, proximal symphalangism, prominent scalp cutaneous veins), mental retardation, and progressive[]

  • Brachydactyly

    Abstract Autosomal-dominant brachydactyly type A2 (BDA2), a limb malformation characterized by hypoplastic middle phalanges of the second and fifth fingers, has been shown[] We report on two sibs, brother and sister, affected with a multiple congenital anomalies/mental retardation (MCA/MR) syndrome, characterized by mild to moderate psychomotor[] On detailed physical examination his fingers were short with either absent or hypoplastic distal phalanges. The thumbs were of normal size and fingernails present.[]

  • Dubowitz Syndrome

    […] nails and distal phalanges (birth defects).[] , short stature, microcephaly, mild mental retardation with behavior problems, eczema, and unusual and distinctive faci DUBOWITZ SYNDROME edit English Dubowitz syndrome Human[] Dubowitz syndrome is an autosomal recessive disorder of growth retardation, characteristic face, mild mental retardation, and eczema originally described by Dubowitz [1965[]

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