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180 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD

  • Sclerosteosis Type 2

    Poor growth (1 patient), microcephaly (-2 to -3 SD) (in some patients), large fleshy earlobes, hypertelorism, upslanting palpebral fissures, broad nasal bridge and tip, tented[iofbonehealth.org]

  • Malpuech Syndrome

    There were five shortened fingers in both hands, all fingers being abnormally widely separated despite partial cutaneous syndactyly of digits 2/3 and 4/5 bilaterally.[slideheaven.com] Three sibs in 1 family had postnatal microcephaly (-2 to -3 SD).[findzebra.com] […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com]

  • Kaufman Oculocerebrofacial Syndrome

    […] was distinctive because of the involvement of both upper and lower limbs (table 5) and the extensive nature of the cutaneous webbing, which frequently included all digits[jmg.bmj.com] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] The incidence of syndactyly in this patient cohort was 61.5% (table 5), less than the frequency of 79% reported by Thomas et al . 2 However, the syndactyly in many patients[jmg.bmj.com]

  • Isolated Agammaglobulinemia

    Less frequent clinical characteristics include nail dystrophy, dental anomalies, cutaneous syndactyly of the digits, and renal malformations.[mendelian.co] […] findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukaemia 4. serum IgG and IgA more than 2 SD below normal for age 5.[esid.org] Probable Make or female patient with three out of the following five findings: 1. microcephaly 2. typical facial appearance 3. lymphoma, leukemia 4. serum IgG and IgA more[esid.org]

  • Chromosome 19q13.11 Deletion Syndrome

    NIH Rare Diseases : 53 Chromosome 19q13.11 deletionsyndrome is a chromosome abnormality that occurs when there is a missing (deleted) copy of genetic material on chromosome 19 at a location designated q13.11. People affected by this condition may have poor growth, severe feeding difficulties shortly after birth,[…][malacards.org]

    Missing: Microcephaly (2-3 SD)
  • Klein-Waardenburg Syndrome

    Waardenburg Syndrome (WS) as a congenital auditory-pigmentary syndrome is a clinically and genetically heterogeneous disorder. Based upon clinical manifestations, it can be classified into four types. Loss of function mutations in PAX3 gene cause WS1 and WS3 (Klein-Waardenburg syndrome). While WS2 and WS4 have locus[…][ncbi.nlm.nih.gov]

    Missing: Microcephaly (2-3 SD)
  • Saethre-Chotzen Syndrome

    Brachydactyly, broad toes, partial cutaneous syndactyly of digits 2 and 3 of the hand, duplicated distal phalanx of the hallux are also often present.[orpha.net]

    Missing: Microcephaly (2-3 SD)
  • Fraser Syndrome

    Commonest anomalies in humans are cryptophthalmos, cutaneous syndactyly of digits, abnormal ears and genitalia, renal agenesis, and congenital heart defects.[ncbi.nlm.nih.gov] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[checkorphan.org] An extra finger or toe situated outside the normal fifth digit (postaxial polydactyly ) and webbing of the fingers or toes (cutaneous syndactyly) are also symptoms seen in[encyclopedia.com]

    Missing: Microcephaly (2-3 SD)
  • Syndactyly

    Syndactyly is a cutaneous and/or bony digital malformation with possible webbing of adjacent fingers or toes and uni- or bilateral occurrence.[ncbi.nlm.nih.gov] He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly.[ncbi.nlm.nih.gov] […] in association with cutaneous syndactyly Usually seen unilaterally, middle phalanges tend to be more severely affected Incidence estimated to be 1/32,000 Polydactylies [[en.wikibooks.org]

    Missing: Microcephaly (2-3 SD)
  • Churg-Strauss Syndrome

    Cutaneous syndactyly is the opposite of bony syndactyly, in which the bones are of the digits are joined.[healthdictionary.info] Cutaneous T Cell Lymphoma A group of lymphomas exhibiting clonal expansion of malignant T-lymphocytes arrested at varying stages of differentiation as well as malignant infiltration[healthdictionary.info]

    Missing: Microcephaly (2-3 SD)

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