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1,346 Possible Causes for Cutaneous Syndactyly of Digits, Ear Deformity, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Ear Deformity, 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] Some of the most common ones are middle and outer ear deformities, partial fusion of the fingers and toes (syndactyly), complete fusion of the eyelids (cryptophthalmos) and[symptoma.com] 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]

    Missing: Microcephaly (2-3 SD)
  • Microtia

    Microtia and Other Ear Deformities Congenital ear deformities occur in many different syndromes or alone.[cranioutah.com] The Microtia – Congenital Ear Deformity Institute has evaluated and performed thousands of surgeries in order to correct children’s ear deformities.[microtia.net] All ears were graded based on the severity of ear deformity using the Jahrsdoerfer system, based on findings on computed tomography of the temporal bone.[ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • 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] Auricular malformation Deformed ears Malformed ears Simple ears [ more ] 0000377 Astigmatism Abnormal curving of the cornea or lens of the eye 0000483 Autosomal recessive[rarediseases.info.nih.gov] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov]

  • 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]

  • 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] Jaw deformities such as a receding upper jaw or a protruding lower jaw Cleft palate (opening in the roof of the mouth) Partially fused or webbed, or unusually short fingers[childrensnational.org] ears, crossed eyes, and downward sloping palpebral fissures TWIST1 Robinow-Sorauf syndrome Widely spaced eyes, deviated septum, flat skull posterior, deformed ears, crossed[en.wikipedia.org]

    Missing: Microcephaly (2-3 SD)
  • Mandibulofacial Dysostosis

    These were correlated with induced ear deformities in an animal model that had features characteristic of human mandibulofacial dysostosis.[ncbi.nlm.nih.gov] RESULTS: The course of the facial nerve was not significantly different in terms of the severity of microtia and deformity of the middle ear.[ncbi.nlm.nih.gov] This deafness is due to a wide range of deformities of the ossicular chain associated with a characteristic reduction in the size of the middle ear cavity.[ncbi.nlm.nih.gov]

    Missing: 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]

    Missing: Ear Deformity
  • Klein-Waardenburg Syndrome

    ), bilateral deafness (deafness in both ears), and hypopigmentation of the skin, eyes and hair.[syndromespedia.com] First discovered in 1948, Waardenburg syndrome is a rare autosomal dominant condition characterized by craniofacial or interocular anomalies (facial and head structure deformities[syndromespedia.com]

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

    […] bruising or bleeding Unusual facial features (which may fade as a child grows), including wide-set eyes, down-slanting eyes, drooping eyelids, arched eyebrows, and low-set ears[norditropin.com] […] with forward-facing lobes Delay in puberty Poor eyesight Chest and skeletal deformities Webbed neck A low hairline at the back of the neck Learning disability or mild retardation[norditropin.com]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)
  • Down Syndrome

    Patients with Down syndrome can present with a variety of oral manifestations such as hypodontia, periodontal disease, premature tooth loss, reduced salivary flow, crowding of teeth in both arches, and decreased occlusal vertical dimension. The intellectual ability of people with Down syndrome varies widely. They[…][ncbi.nlm.nih.gov]

    Missing: Cutaneous Syndactyly of Digits Microcephaly (2-3 SD)

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