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

  • Legius Syndrome

    Legius syndrome ( LS ) is an autosomal dominant condition characterized by cafe au lait spots. MD, Robert P. Erickson; PhD, Anthony J. Wynshaw-Boris MD (2016).[] "Legius syndrome typically follows a more benign course and clinical management should primarily focus on developmental and speech delays, learning disabilities, and attention[] Mother's sister and grandfather have some cafe-au-lait spots.[]

  • Russell-Silver Syndrome

    […] extremely short stature and body and facial asymmetry, excessive sweating, a small triangular face which makes the skull look large by comparison, inward curved fingers, cafe-au-lait[] Specific issues include growth failure, severe feeding difficulties, gastrointestinal problems, hypoglycaemia, body asymmetry, scoliosis, motor and speech delay and psychosocial[] Performance : muscular hypotonia and hypotrophy, rare motor/neuropsychological delay, feeding difficulties, speech delay.[]

  • Neurofibromatosis Type 1

    Von Recklinghausen's disease or neurofibromatosis 1 is an autosomal dominant disorder with multiple neurofibromas and schwannomas, along with cafe au lait spots and axillary[] Sixty-eight percent of the children exhibited delays in speech and/or language.[] Additionally, NF1-like cafe-au-lait spots have been described in biallelic mismatch repair deficiency, another condition featuring gastrointestinal polyps.[]

  • Ring Chromosome 15

    CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots.[] 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[] Other symptoms might include congenital heart defects , kidney problems, congenital dislocation of the hips, and cafe-au-lait spots .[]

  • Rubinstein-Taybi Syndrome

    […] uterus 0000136 Bimanual synkinesia Hand mirror movements Mirror hand movements Mirror movements [ more ] 0001335 Broad hallux Broad big toe Wide big toe [ more ] 0010055 Cafe-au-lait[] After two years we suspected some speech delay, but it wasn't until she was three that a geneticist confirmed the unvoiced opinion of our paediatrician that she had Rubinstein-Taybi[] Most children with RSTS experience a significant delay in expressive speech.[]

  • Neurofibroma

    Carriers of this autosomal dominant trait are prone to the occurrence of benign and malignant tumors which present with cafe-au-lait spots, fibromatous tumors in the skin[] […] problems, and delays in an individual's development.[] […] on the optic nerve (an optic glioma ) light brown flat skin marks called "café au lait" spots Because it affects the nervous system, NF1 may cause learning disabilities, speech[]

  • Bloom Syndrome

    Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[] , and/or cognitive delay Rare cases have been associated with: cardiac defects (congenital heart disease, pericarditis, etc.) underlying malignant conditions (e.g., Wilms'[] […] shape of the face, such as a long face and a small lower jaw, as well as large ears and a prominent nose changes in skin colour – areas may be darker or lighter than normal cafe-au-lait[]

  • McCune-Albright Syndrome

    McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[] […] as speech apraxia, and global developmental delay [ 6 ].[] Paris-Sud, Inserm U693, 78, rue du Général-Leclerc, 94275 Le Kremlin-Bicêtre, France. Abstract The McCune-Albright syndrome is characterized by cafe-au-lait[]

  • Ataxia Telangiectasia

    We describe a 17-year-old boy with slurred speech, mild motor delays and learning disability diagnosed with atypical A-T in the setting of T-cell acute lymphoblastic leukemia[] Dull, sad, inattentive facial features Growth delay Learning difficulties in one-third of patients.[] Delays in speech initiation and lack of facial expression make it seem that they do not know the answers to questions.[]

  • Watson Syndrome

    From Wikidata Jump to navigation Jump to search No description defined WATSON SYNDROME; WTSN WATSON SYNDROME Pulmonic Stenosis With Cafe-Au-Lait Spots Cafe-Au-Lait Spots With[] speech Reported in 1/3 usually secondary to ottitis media Sensorineural loss in 3% Cardiovascular [ edit ] Potential bias in frequency due to requirement for diagnosis by[] Format Definition A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation.[]

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