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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[] Rubinstein-Taybi syndrome (RTS) is a rare congenital disorder characterized by broad thumbs and halluces, dysmorphic facial features, mental retardation, and short stature[] Rubinstein-Taybi syndrome (RTS; MIM# 180849) is a well-known malformation syndrome, characterized by broad thumbs and halluces, a characteristic facies, short stature, and[]

  • 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.[] 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.[] 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.[]

  • LEOPARD Syndrome

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

  • 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[] Bloom syndrome is an autosomal recessive disorder characterized by proportionate short stature, photosensitivity, immunodeficiency, hypogonadism and a tendency to develop[] […] 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[]

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

  • McCune-Albright Syndrome

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

  • 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[] stature Prevention - Singleton Merten syndrome Not supplied.[] 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.[]

  • 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[] In children, growth rates may be slow, ultimately resulting in short stature. Affected individuals may be prone to fractures.[] Hemangiomas, lipomas, hypopigmented lesions, and rarely cafe au lait spot have also been described.[]

  • Watson Syndrome

    Format Definition A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation.[] Short stature is an additional feature of this autosomal dominant condition. A fourth family with Watson syndrome has since been reported.[] Symptoms Café au lait spots In Watson syndrome cafe-au-lait spots are associated with pulmonic stensis. Systematic References: 1.[]

  • SHORT Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[] It shares many of the characteristics of hyperphagic short stature.[] 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[]

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