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1,327 Possible Causes for Cutaneous Syndactyly of Digits, Dysmorphic Face, Microcephaly (2-3 SD)

Did you mean: Cutaneous Syndactyly of Digits, Dysmorphic Face, 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] Crouzon craniofacial dysostosis (OMIM 123500) involves only the face and skull.[rrnursingschool.biz] The distinguishing dysmorphism consists in underdevelopment of the midfacial bones, resulting in shallow orbits with ex-ophthalmos, and prognathism with inverted dental occlusion[rrnursingschool.biz]

    Missing: Microcephaly (2-3 SD)
  • 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)
  • Craniosynostosis

    Abnormal extremities (broad, laterally deviated first digits, 2/3 cutaneous syndactyly and brachydactyly) are variable and only occasionally diagnostic.[nature.com] Syndromic craniosynostosis is associated with various dysmorphisms involving the face, skeleton, nervous system, and other anomalies and is usually accompanied by developmental[ncbi.nlm.nih.gov] Examine the face for dysmorphic features, including hyper- or hypotelorism, exorbitism, midface hypoplasia, asymmetry and ear size, position and shape.[nature.com]

    Missing: Microcephaly (2-3 SD)
  • Pallister-Hall Syndrome

    Some patients have mild partial cutaneous syndactyly of a few digits and this spectrum continues through to complete cutaneous syndactyly of all digits, not unlike that seen[ojrd.biomedcentral.com] The hand of this patient shows a broad thumb, complete cutaneous syndactyly of digits 2–5 with fusion of the nails and a postaxial supernumerary digit. C.[ojrd.biomedcentral.com] The foot of this patient shows a partially duplicated hallux with cutaneous syndactyly of several digits. The craniofacial manifestations are also highly variable.[ojrd.biomedcentral.com]

    Missing: Microcephaly (2-3 SD)
  • Pallister W Syndrome

    syndactyly between digits two and three had been repaired—these digits were of normal size but the thumb was camptodactylous and dislocated at the metacarpophalangeal joint[docksci.com] Dysmorphic features included a long face and nose with protruding nasal tip and short philtrum.[findzebra.com] Facial dysmorphic features were present, including: a coarse face, a prominent forehead, bitemporally sparse hair, narrow and upslanted palpebral fissures, hypertelorism,[molecularcytogenetics.biomedcentral.com]

    Missing: Microcephaly (2-3 SD)
  • Acrocephalopolysyndactyly

    There may be partial fusion of the soft tissues (cutaneous syndactyly) between certain fingers, particularly the third and fourth digits.[rarediseases.org] syndactyly) between certain digits; and the presence of extra (supernumerary) toes or, less commonly, additional fingers (polydactyly).[rarediseases.org] […] hypoplastic) upper and/or lower jaw (maxilla and/or mandible).Individuals may also have unusually short fingers and toes (brachydactyly); partial fusion of the soft tissues (cutaneous[rarediseases.org]

    Missing: Microcephaly (2-3 SD)
  • 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] Last update: April 2007 This syndrome is characterized by the association of absent patellae, genital anomalies, dysmorphic features (coarse face, large nose, microcephaly[findzebra.com]

  • Klinefelter Syndrome

    Researchers estimate that 1 male in about 500 newborn males has an extra X chromosome, making KS among the most common chromosomal disorders seen in all newborns. 1 The likelihood of a third or fourth X is much rarer: 2 Prevalence of Klinefelter syndrome variants Number of extra X chromosomes One (XXY) Two[…][web.archive.org]

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

    Marfan syndrome is one of the most common connective tissue diseases and may manifest with a range of symptoms and pathologic changes. We present a retrospective series of 5 cases of patients with Marfan syndrome and pulmonary pathology. Patients were young to middle-aged adults with absent or minimal smoking[…][ncbi.nlm.nih.gov]

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