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315 Possible Causes for Cafe-Au-Lait Spots, Short Stature

  • Neurofibromatosis-Noonan Syndrome

    Multiple pigmented spots of size 1 to 5 mm were noticed all over the body and cafe-au-lait spots ranging from 1 to 4 cm were also present.[jpgmonline.com] Abstract We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short[ncbi.nlm.nih.gov] The findings in this patient show that short stature is a feature of NFNS and can be caused by GHD. Patients with NFNS who show poor growth should be evaluated for GHD.[ncbi.nlm.nih.gov]

  • LEOPARD Syndrome

    au lait spots.[ncbi.nlm.nih.gov] stature.[ncbi.nlm.nih.gov] The male patient had progressively increasing generalised multiple lentiginosis, ocular hypertelorism, pulmonary stenosis, short stature, cryptorchidism, and pectus excavatum[ncbi.nlm.nih.gov]

  • 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[medical-dictionary.thefreedictionary.com] Abstract A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism.[ncbi.nlm.nih.gov] 29% of people have these symptoms Abnormal vagina morphology 0000142 Abnormality of the cardiovascular system Cardiovascular abnormality 0001626 Autistic behavior 0000729 Cafe-au-lait[rarediseases.info.nih.gov]

  • 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[rarediseases.info.nih.gov] Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature[ncbi.nlm.nih.gov] Abstract Rubinstein-Taybi syndrome (RTS) is a well-known disorder characterized by growth and mental retardation, typical facial features, short stature, and broad thumbs[ncbi.nlm.nih.gov]

  • 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[radiopaedia.org] Abstract Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to[ncbi.nlm.nih.gov] Bloom syndrome is a rare autosomal recessive disorder characterized by short stature, brachydactyly, malar hypoplasia and facial telangiectasia, erythema and cafe au lait[radiopaedia.org]

  • 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[wikidata.org] Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported.[ncbi.nlm.nih.gov] Format Definition A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation.[uniprot.org]

  • Ataxia Telangiectasia

    A 9-year-old girl born to healthy parents showed manifestations suggestive of ataxia telangiectasia (AT), such as short stature, sudden short bouts of horizontal and rotary[ncbi.nlm.nih.gov] stature and delayed puberty Mild learning problems or mild intellectual disability Smaller-than-normal cerebellum (a part of the brain), which can be seen on an MRI exam[stjude.org] Cockayne's syndrome ( ICD-10-CM Diagnosis Code Q87.1 Congenital malformation syndromes predominantly associated with short stature 2016 2017 2018 2019 Billable/Specific Code[icd10data.com]

  • Ring Chromosome 15

    CONCLUSION: Ring chromosome 15 syndromes should be considered in a case having short stature with cafe-au-lait spots.[msjonline.org] Other symptoms might include congenital heart defects , kidney problems, congenital dislocation of the hips, and cafe-au-lait spots .[rarediseases.info.nih.gov] Both had the common clinical manifestations reported in previous cases with r(15), including severe short stature, microcephaly, triangular face, and mild mental retardation[ncbi.nlm.nih.gov]

  • 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).[en.wikipedia.org] Other less common manifestations include short stature, macrocephaly, Noonan-like facies, pectus excavatum/carinatum, lipomas, hypopigmented macules, vascular lesions, learning[orpha.net] Mother's sister and grandfather have some cafe-au-lait spots.[ncbi.nlm.nih.gov]

  • LEOPARD Syndrome

    […] can be clinically suspected in patients presenting with three main features, that is, characteristic facial features (100%), hypertrophic cardiomyopathy (HCM) (87%), and cafe-au-lait[ncbi.nlm.nih.gov] stature.[ncbi.nlm.nih.gov] In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[care.com]

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