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924 Possible Causes for Cafe-Au-Lait Spots, Overfolded Superior Helix, Single Transverse Palmar Crease

  • Seckel Syndrome

    […] contracture Contractures of elbows Elbow contracture Elbow contractures [ more ] 0002987 Facial asymmetry Asymmetry of face Crooked face Unsymmetrical face [ more ] 0000324 Few cafe-au-lait[rarediseases.info.nih.gov] transverse palmar crease 0000954 Sloping forehead Inclined forehead Receding forehead [ more ] 0000340 Small anterior fontanelle 0000237 Small for gestational age Birth weight[rarediseases.info.nih.gov] spots 0007429 Growth delay Delayed growth Growth deficiency Growth failure Growth retardation Poor growth Retarded growth [ more ] 0001510 Heart murmur Heart murmurs 0030148[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • 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] transverse palmar crease 0000954 Spina bifida occulta 0003298 Sporadic No previous family history 0003745 Stereotypy Repetitive movements Repetitive or self-injurious behavior[rarediseases.info.nih.gov] spot 0000957 Cataract Clouding of the lens of the eye Cloudy lens [ more ] 0000518 Chorioretinal dystrophy 0001135 Coloboma Notched pupil 0000589 Deeply set eye Deep set[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    [Kidneys]; Hydronephrosis; Calicectasis SKELETAL: Delayed bone age; Joint laxity; [Hands]; Fifth finger clinodactyly; Transverse palmar crease SKIN, NAILS, HAIR: [Skin]; Cafe-au-lait[findzebra.com] transverse palmar crease 0000954 Sparse and thin eyebrow Thin, sparse eyebrows 0000535 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629[rarediseases.info.nih.gov] transverse palmar crease Feeding difficulties in infancy Narrow forehead Brachydactyly Hypoplasia of the corpus callosum Craniosynostosis Constipation Hypermetropia Coloboma[mendelian.co]

  • Ring Chromosome 7

    Common clinical manifestations in r(7) are: growth delay, microcephaly, and dermato- logical abnormalities such as dark pigmented naevi and ‘‘cafe -au-lait’’ spots.[slideshare.net] transverse palmar crease 0000954 Small hand Disproportionately small hands 0200055 1%-4% of people have these symptoms 3-4 toe syndactyly Webbed 3rd-4th toes 0009779 Bifid[rarediseases.info.nih.gov] Nonetheless, our case showed growth delay, cafe -au-lait spots, and microcephaly, all of which are manifestations that are peculiar to cases of ring chromosome 7.[slideshare.net]

    Missing: Overfolded Superior Helix
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    Cafe-au-lait spots occur and increase in number over the rst2 years.[documents.tips] transverse palmar crease ; Sloping forehead ; Small anterior fontanelle ; Sparse and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot[mousephenotype.org] […] hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • 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[quizlet.com] transverse palmar crease Brachycephaly Coma Respiratory insufficiency Anteverted nares Craniosynostosis Wide nasal bridge Hypertension Epicanthus Visual impairment Anal atresia[mendelian.co] transverse palmar crease, characteristic facial appearance (epicanthal folds, upslanting palpebral fissures, protruding tongue) Leukemia : CBC annually, consider BM evaluation[hematology.org]

    Missing: Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    C * C syndrome * CACH syndrome * CADASIL * Cafe au lait spots, multiple * Caffey disease * CAHMR syndrome * Calabro syndrome * Calcifying Epithelial Odontogenic Tumor * Calciphylaxis[medicalgeek.com] transverse palmar crease 32 HP:0000954 9 radial bowing 32 HP:0002986 10 postaxial oligodactyly 32 HP:0006210 11 partial-complete absence of 5th phalanges 32 HP:0006209 12[malacards.org] transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co]

    Missing: Overfolded Superior Helix
  • Coffin-Lowry Syndrome

    superior helix [ Graham et al 1998 ].[ncbi.nlm.nih.gov] transverse palmar crease 0000954 Sporadic No previous family history 0003745 Telecanthus Corners of eye widely separated 0000506 Thick eyebrow Bushy eyebrows Dense eyebrow[rarediseases.info.nih.gov] […] macrocephaly; constipation that may be associated with anal anomalies; broad thumbs and halluces; prominent fingertip pads; and small, rounded, cupped ears that often have an overfolded[ncbi.nlm.nih.gov]

    Missing: Cafe-Au-Lait Spots
  • Ring Chromosome 10

    au lait spot, digital anomalyMicrocephaly, short statureFDMental retardation, hypotrophy, hypotonic PMDDSystolic murmur46,XX,r(11); no apparent loss of chromosome material[edmcasereports.com] Their common features were mental and growth retardation, low birth weight, microcephaly, stubby nose, hypertelorism, strabismus, wide set nipples, single transverse palmar[ncbi.nlm.nih.gov] The main features are low birth weight, microcephaly, stubby nose with a prominent nasal bridge, hypertelorism, strabismus, wide-set nipples, single transverse palmar creases[malacards.org]

    Missing: Overfolded Superior Helix
  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    […] hyperflexibility Joints move beyond expected range of motion 0005692 Low-set ears Low set ears Lowset ears [ more ] 0000369 Microdontia Decreased width of tooth 0000691 Multiple cafe-au-lait[rarediseases.info.nih.gov] transverse palmar creases 0007598 Brachydactyly Short fingers or toes 0001156 Broad distal phalanx of finger Broad outermost finger bone 0009836 Bulbous nose 0000414 Delayed[rarediseases.info.nih.gov] […] these symptoms is not available through HPO Areas of hypopigmentation and hyperpigmentation that do not follow Blaschko lines 0007402 Autosomal recessive inheritance 0000007 Cafe-au-lait[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix

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