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1,026 Possible Causes for Cafe-Au-Lait Spots, Cerebellar Ataxia, Epicanthal Folds, Low Set Ears, Scoliosis

  • Noonan Syndrome

    In addition, LEOPARD syndrome is confused with Neurofibromatosis Type 1 due to the presence of cafe-au-lait spots.[] . - It is difficult to look high in the sky at noon, therefore everything is down in NOONan syndrome- Low set ears, Downslanting eyes, Low posterior hair line, Low levels[] ., epicanthal folds, ptosis, ocular hypertelorism), and micrognathia. Individuals with Noonan syndrome often may have either pectus excavatum or pectus carinatum.[] A 16 year old male with Noonan's syndrome develops progressive scoliosis and deteriorating gait.[] External features were hypertelorism (74%), downward sloping palpebral apertures (38%), epicanthic folds (39%) and ptosis (48%).[]

    Missing: Cerebellar Ataxia
  • Dubowitz Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[] […] anterior hairline Low frontal hairline Low-set frontal hairline [ more ] 0000294 Low-set, posteriorly rotated ears 0000368 Micrognathia Little lower jaw Small jaw Small lower[] Ocular problems occur in about 20%: strabismus, blefarophimosis, ptosis, telecanthus and epicanthal folds being the most frequent ones.[] Patients with Dubowitz syndrome may be at risk of having a progressive, rigid scoliosis.[] Dubowitz syndrome is an autosomal recessive condition characterized by pre- and postnatal growth retardation, eczema, telecanthus, epicanthal folds, blepharophimosis, ptosis[]

  • 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[] […] syn·drome ( rū'bĭn-stīn tā'bē ), mental retardation, broad thumb and great toe, antimongoloid slant to the eyes, thin and beaked nose, microcephaly, prominent forehead, low-set[] […] of skin on either side of the nose that may cover the eyes’ inner corners (epicanthal folds).[] Scoliosis has not been reported as one of the extra-cranial manifestations of Rubinstein-Taybi syndrome type 2.[] Prominent and beaked nose, hypoplasia of the maxilla, low-set ears, micrognathia, enamel hypoplasia, talon cusps, highly arched eyebrows and long eyelashes are the most common[]

    Missing: Cerebellar Ataxia
  • Turner Syndrome

    Other characteristics, like widely spaced nipples or low-set ears, also may lead to a suspicion of Turner syndrome.[] Clinically, patients with Turner syndrome are short, and they have a small chin, prominent folds of skin at the inner corners of the eyes (epicanthal folds), low-set ears,[] Scoliosis The incidence of scoliosis in TS patients was 0.69%, compared with 0.39% among non-TS patients.[] folds can be present; red-green color blindness Ears: Serous otitis media is more common [4] ; the auricles may be posteriorly rotated or low set; hearing loss due to otosclerosis[] […] thyroiditis (25.2%), inflammatory bowel disease (1.8%), congenital cardiovascular anomaly (11.8%), urinary tract malformation (11.8%), low bone mineral density (BMD) (42.9%), scoliosis[]

    Missing: Cafe-Au-Lait Spots Cerebellar Ataxia
  • Ataxia Telangiectasia

    Scoliosis varies from mild to severe.[] Only a mild cerebellar ataxia was present at the age of 7 years then she developed a Wilms tumor (nephroblastoma).[] Although A-T is known to be the most common cause of progressive cerebellar ataxia in childhood, there have been no confirmed cases in Korea.[] Early and continued physical therapy has been proven to slow muscle degeneration and minimize contractures and scoliosis (Gatti, R., GeneReviews. 2010;[] Possible Complications Complications may include: Cancer, such as lymphoma Diabetes Kyphosis Progressive movement disorder that leads to wheelchair use Scoliosis Severe, recurrent[]

    Missing: Epicanthal Folds Low Set Ears
  • Cerebellotrigeminal Dermal Dysplasia

    The childs motherhad a similar cafe-au-lait spot in the right thigh. After twodays of hospitalization, he was discharged with moderate leftweakness.[] Other features observed in patients were craniosynostosis, midfacial hypoplasia, bilateral corneal opacities, low-set ears, short stature, moderate intellectual impairment[] folds, and grimacing smile) temporal triangular alopecia (if large areas of involvement consider cerebellotrigeminal dermal dysplasia) Name of disorders present at birth[] Patients presenting with scoliosis have to be evaluated carefully, because this can make neuraxial blockade extremely difficult.[] Ancillary Article Information Format Available Full text: PDF Request Permissions Keywords symmetrical scalp alopecia; craniosynostosis; cerebellar ataxia; rhombencephalosynapsis[]

  • Homocystinuria

    The patient shows some of the facial features that were already reported in the literature (high forehead, large floppy, low-set ears, flat philtrum and hypotonia of perioral[] Further investigations disclosed lens subluxation in association with myopia, mild scoliosis and osteopenia.[] The two diseases are clinically similar but florid arachnodactyly and scoliosis are commoner in Marfan's syndrome, whereas widening of epiphyses and metaphyses of long bones[] […] girl presented at the age of 13 years with macrocytic anaemia, cognitive regression and Marfanoid features such as increased arm-span, arachnodactyly, joint hyperlaxity and scoliosis[] The patient also shows signs that had not been previously described: epicanthal folds, broad nasal bridge, long and flat philtrum, amimic expression and, particularly, a postural[]

    Missing: Cafe-Au-Lait Spots Cerebellar Ataxia
  • 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[] Noonan Syndrome : A rare genetic disorder characterized by distinctive craniofacial features, including ocular hypertelorism, severe ptosis, prominent low-set ears and pterygium[] Also check for bony abnormalities, such as scoliosis or kyphosis. Prognosis - Watson syndrome Not supplied. Treatment - Watson syndrome Not supplied.[] CANVAS is an easy to remember acronym for cerebellar ataxia (the CA), neuropathy (N), and vestibular areflexia (VA) syndrome.[] Format Definition A syndrome characterized by the presence of pulmonary stenosis, cafe-au-lait spots, and mental retardation.[]

  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    spots Multiple neurofibromas Lisch nodules Optic pathway glioma NF1 - Neurofibromatosis 1 Neurofibromin protein - Chromosome 17, AD Bilateral acoustic neuromas Multiple cafe-au-lait[] set ears, overlapping fingers, hypoplastic nails, rocker-bottom feet, horseshoe kidneys Term Definition brachycephaly, low set ears, hypotonia, upslanting palpebral fissures[] Also, infants with this type of EDS have an abnormal curvature of the spine ( scoliosis ).[] ataxia -pulmonary infections secondary to impiared WBC and IgA development T cell defect -chromosome 22q11 deletion- associated with velocardiofacial -thymic and parathyroid[] Cerebellar ataxia, telangiectasia (enlarged capillaries of face and skin), B and T-Cell deficiencies, IgA deficiency.[]

  • Short stature-Valvular Heart Disease-Characteristic Facies Syndrome

    A syndrome of prenatal growth deficiency with postnatal immature bone development, developmental asymmetry, abnormal sexual development, small triangular face, cafe-au-lait[] […] nuchal hairline • Low set ears • Cubitus valgus • Hypertrophic cardiomyopathy Turner’s syndrome • Short stature • Webbed neck • Low nuchal hairline • Low set ears • Cubitus[] folds (vertical skin folds that cover the inner corners of the eyes Feeding difficulties in infancy, often leading to poor growth Shorter than average height Low body tone[] Epistaxis, prolonged bleeding following injury & menorrhagia Skeletal Cubitus valgus, Scoliosis, Talipesequinovarus, Pectuscarinatum superiorly, pectusexcavatum inferiorly[] ataxia and cognitive impairment are also potential diagnostic signs. 1, 16 Skeletal muscle weakness can result in masked facies and may progress to include wasting of the[]

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