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2,440 Possible Causes for Cutaneous Syndactyly of Digits, Microcephaly (2-3 SD), Multiple Congenital Anomalies

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

  • 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] Winter and Michael Baraitser, A catalogue of multiple congenital anomaly syndromes, Multiple Congenital Anomalies, 10.1007/978-1-4899-3109-2_1, (1-672), (1991).[doi.org]

  • Klein-Waardenburg Syndrome

    — Klein's Syndrome — Kleins Syndrome — Syndrome, Klein's — Waardenburg Syndrome with Upper Limb Anomalies[mesh.kib.ki.se] Congenital Malformations — Waardenburg Syndrome, Type 3 — Waardenburg Syndrome, Type III — Waardenburg-Klein Syndrome — Syndrome, Waardenburg-Klein — Waardenburg Klein Syndrome[mesh.kib.ki.se] Syndrome, Klein — Klein-Waardenburg Syndrome — Klein Waardenburg Syndrome — Syndrome, Klein-Waardenburg — Waardenburg Syndrome Type 3 — White Forelock (Poliosis) Syndrome with Multiple[mesh.kib.ki.se]

    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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.de] 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)
  • 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] ZTTK SYNDROME; ZTTKS Is also known as zhu-tokita-takenouchi-kim syndrome, zttk multiple congenital anomalies-mental retardation syndrome; Related symptoms: Autosomal dominant[mendelian.co]

  • Craniosynostosis

    Abnormal extremities (broad, laterally deviated first digits, 2/3 cutaneous syndactyly and brachydactyly) are variable and only occasionally diagnostic.[nature.com] Noonan syndrome (NS) is a multiple congenital anomaly syndrome caused by germline mutations in genes coding for components of the Ras-mitogen-activated protein kinase (RAS-MAPK[ncbi.nlm.nih.gov] Maternal pesticide exposure from multiple sources and selected congenital anomalies.[ncbi.nlm.nih.gov]

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

    Minor anomalies as clinodactylyl of the firth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[ncbi.nlm.nih.gov] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] Minor anomalies as clinodactyly of the fifth digits, cutaneous syndactyly of toes, foot deformity, sacral dimple and cryptorchidism may be seen.[link.springer.com]

    Missing: 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] Microcephaly is often moderate with OFC -2 to -3 SD; it is not currently known to worsen with age.[ncbi.nlm.nih.gov] […] disorder characterized by… … Wikipedia Derivative 22 syndrome — Derivative 22 syndrome, or der(22), is a rare disorder associated with multiple congenital anomalies, including[translate.academic.ru]

  • Lenz-Majewski Syndrome

    Delayed closure of fontanelle, proximal symphalangism, short digits, partial syndactyly, prominent cutaneous veins, loose and wrinkled atrophic skin of hands, skin hypoplasia[accessanesthesiology.mhmedical.com] congenital anomalies, mental retardation and progressive skeletal sclerosis Statements Identifiers Sitelinks Wikipedia (3 entries) edit Wikibooks (0 entries) edit Wikiquote[wikidata.org] Definition A syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis.[uniprot.org]

    Missing: Microcephaly (2-3 SD)
  • Gorlin-Chaudhry-Moss Syndrome

    Skeletal defects: syndactyly, polydactyly, ectrodactyly, hypoplasia of the digits, and vertebral abnormalities like scoliosis, kyphosis, vertebral body fusions, and spina[vivavoceoralmedicineradiology.com] Disease definition Gorlin-Chaudhry-Moss (GCM) syndrome is a multiple congenital anomaly syndrome characterized by craniofacial dysostosis, facial dysmorphism, conductive hearing[gorlinchaudhrymosssyndrome.wordpress.com] Development of raspberry-like papillomas around the lips, anus, and genitalia, and on the end of the digits.[vivavoceoralmedicineradiology.com]

    Missing: Microcephaly (2-3 SD)
  • 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] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com] 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]

    Missing: Microcephaly (2-3 SD)