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

  • 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] Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and[ncbi.nlm.nih.gov]

  • 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] We are reporting on a boy and his mother with neurofibromatosis and manifestations of Noonan syndrome, including short stature, ptosis, midface hypoplasia, and short neck.[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]

  • 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] Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop[ncbi.nlm.nih.gov] […] 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[medic8.com]

  • 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] 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]

  • McCune-Albright Syndrome

    The McCune-Albright syndrome is characterized by cafe-au-lait spots, precocious puberty, and fibrous dysplasia.[ncbi.nlm.nih.gov] Short stature not associated with GH-IGF-1 axis abnormality was a second anomalous finding in this case.[ncbi.nlm.nih.gov] McCune-Albright syndrome (MAS) is characterized by the triad of fibrous dysplasia (FD), cafe-au-lait spots and precocious puberty (PP).[ncbi.nlm.nih.gov]

  • Singleton Merten Syndrome

    […] bridge Skeletal dysplasia Abnormality of the genital system Long face Intellectual disability, mild Ventricular septal defect Downslanted palpebral fissures Microretrognathia Cafe-au-lait[mendelian.co] stature Prevention - Singleton Merten syndrome Not supplied.[checkorphan.org] She was of proportional short stature with height at the 3rd centile at 10 years. At 11 years a systolic murmur was first heard although she had no cardiac symptoms.[adc.bmj.com]

  • Linear Nevus Sebaceus Syndrome

    […] epididymis, pancreatic cysts, adrenal pheochromocytomas; 1 4 develop renal cell cancer von Recklinghausen disease A relatively common–1/3500 AD condition Clinical Neurofibromas, cafe-au-lait[medical-dictionary.thefreedictionary.com] In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures.[rarediseases.org] Hemangiomas, lipomas, hypopigmented lesions, and rarely cafe au lait spot have also been described.[annalsofian.org]

  • Watson Syndrome

    Format Definition A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation.[uniprot.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] Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1.[moldiag.com]

  • SHORT 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] It shares many of the characteristics of hyperphagic short stature.[patient.info] stature syndrome) AR 9 9 ORC4 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) AR 22 6 ORC6 Meier-Gorlin syndrome (Ear-patella-short stature syndrome) AR 7 6 OTX2[blueprintgenetics.com]

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