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378 Possible Causes for Cafe-Au-Lait Spots, Speech Delay

  • Multiple Hamartoma Syndrome

    […] report, have most of the previously reported findings associated with this syndrome and several important unreported findings that include multiple cutaneous trichilemmomas, cafe-au-lait[ncbi.nlm.nih.gov] delay, may have seizures, mild hypertelorism.[en.wikibooks.org] […] macules; Pediatr Clin North Am. 2010 Oct;57(5):1131-53. doi: 10.1016/j.pcl.2010.07.002, Retrieve from: William D James, (2016); Cafe Au Lait Spots; Retrieve from: Marcia[syndromespedia.com]

  • Juvenile Myelomonocytic Leukemia

    Physical findings include: Skin: eczema , xanthoma, cafe-au-lait spots, macular-papular rash Lymphadenopathy Hepatosplenomegaly Bleeding Respiratory symptoms: chronic tachypnea[78stepshealth.us] delay and 52% had learning difficulties, but only 22% required special education.[ncbi.nlm.nih.gov] […] showed postnatal growth retardation, 90% had congenital heart defects, 36% had hypertrophic cardiomyopathy (a lower incidence compared with previous report), 50% displayed speech[ncbi.nlm.nih.gov]

  • Muckle Wells Syndrome

    au lait spots cutaneous neurofibromas NF2 bilat vestibular schwannomas, schwannomas, meningiomas, NO Lisch nodules, FEVER cafe au lait macules dz of skin nervous sys, caused[quizlet.com] Of note, the patient's history was significant for conductive hearing loss, speech delay, as well as recurrent acute otitis media episodes.[ncbi.nlm.nih.gov] […] neurofibromas plexiform neuromas larger deeper tumors a/w hypertrophy of bony soft tissues neurofibromatosis - variants segmental neurofibromatosis SEGMENTAL DISTRIB of cafe[quizlet.com]

  • Ring Chromosome 17

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] In addition to psychomotor retardation, speech delay and seizure disorders, his abnormal phenotypic features included epicanthal folds, broad depressed nasal bridge, protruding[ncbi.nlm.nih.gov] , speech delay, good receptive language, mental retardation, facial dysmorphism q10 q11.2?[chr7.org]

  • Ring Chromosome 21

    Ring chromosome 11 and cafe-au-lait spots. Am J Med Genet. 1988;30(4):911–6.[molecularcytogenetics.biomedcentral.com] Using conventional and molecular cytogenetics approaches we identified a de novo chromosome 21 sSRC in a child with speech delay and mild intellectual disability.[ncbi.nlm.nih.gov] Case 1 had severe myopia, hypotonia, joint hypermobility, speech delay, and dysmorphic features. aCGH detected a 1.275-Mb duplication of 21q22.12-q22.13 and a 6.731-Mb distal[ncbi.nlm.nih.gov]

  • Schimke Immunoosseous Dysplasia

    The first had disproportionate growth retarda- tion, a characteristic facial appearance, and multiple cafe-au-lait spots on the trunk at the age of 4 years.[docslide.com.br] DELAY, DYSMORPHIC FACIES, AND T-CELL ABNORMALITIES Interleukin 2 Receptor, Alpha, Deficiency of intermittent claudication Interstitial Lung Disease, Nephrotic Syndrome, and[rgd.mcw.edu] More info about SCHIMKE IMMUNOOSSEOUS DYSPLASIA; SIOD Low match NEUROFIBROMATOSIS, TYPE I; NF1 Neurofibromatosis type I is an autosomal dominant disorder characterized by cafe-au-lait[mendelian.co]

  • Ring Chromosome 15

    Other symptoms might include congenital heart defects , kidney problems, congenital dislocation of the hips, and cafe-au-lait spots .[rarediseases.info.nih.gov] Other frequent findings include delayed bone age (75%), brachydactyly (44%), speech delay (39%), frontal bossing (36%), anomalous ears (30%), café-au-lait spots (30%), cryptorchidism[ncbi.nlm.nih.gov] au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com]

  • Ring Chromosome 4

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] , limb and digit deformities, congenital heart defects, a varying degree of psychomotor retardation, speech delay, learning difficulties, aggressive behavior and short attention[questia.com] Common clinical manifestations in r(7) are: growth delay, microcephaly, and dermato- logical abnormalities such as dark pigmented naevi and ‘‘cafe -au-lait’’ spots.[slideshare.net]

  • Incontinentia Pigmenti Achromians

    Hypomelanosis of Ito associated with cafe-au-lait spot and angiomatous nevi.[ijpd.in] Other significant neurologic complications included hypotonia, macrocephaly, microcephaly, speech delay, autistic behaviors, and expressive language disabilities.[file.scirp.org] Hypomelanosis of Ito associated with cafe-au-lait spot and angiomatous nevi Department of Dermatology, Saveetha Medical College, Thandalam, Chennai, Tamil Nadu, India Date[ijpd.in]

  • Dubowitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[icd10data.com] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] speech and language development Deficiency of speech development Delayed language development Delayed speech Delayed speech acquisition Delayed speech development Impaired[rarediseases.info.nih.gov]

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