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179 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD), Midline Nasal Cleavage

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

  • 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)
  • 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]

    Missing: Midline Nasal Cleavage
  • 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]

    Missing: Midline Nasal Cleavage
  • 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]

    Missing: Midline Nasal Cleavage
  • 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]

    Missing: Midline Nasal Cleavage
  • 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) Midline Nasal Cleavage
  • 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) Midline Nasal Cleavage
  • Klein-Waardenburg Syndrome

    Klein-Waardenburg syndrome, also known as Waardenburg syndrome type 3, belongs to a group of auditory-pigmentary syndromes. It is considered as a severe form of type 1, or classic Waardenburg syndrome, characterized by sensorineural hearing loss, dystopia canthorum, and heterochromia iridis. The presence of[…][symptoma.com]

    Missing: Microcephaly (2-3 SD) Midline Nasal Cleavage
  • Syndactyly (Feet)

    syndactyly of digits II-V, unilateral or bilateral brachydactyly type D (i.e. short, broad terminal phalanges of the thumbs), clinodactyly of fifth toes and/or mild hypoplasia[ebi.ac.uk] Syndactyly [Osseous and/or cutaneous fusion between two adjacent digits] Syndactyly is a relatively common differentiation defect, with an estimated incidence ranging from[rrnursingschool.biz] […] 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) Midline Nasal Cleavage
  • Cenani Syndactylism

    The thumb and second digit showed complete, cutaneous syndactyly.[updoc.site] He presented with three malformed digits on each hand and bilateral 2,3 partial cutaneous toe syndactyly.[semanticscholar.org] He presented with three malformed digits on each hand and bilateral i 2,3 partial cutaneous i toe syndactyly.[kabukisyndrome.com]

    Missing: Microcephaly (2-3 SD) Midline Nasal Cleavage