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645 Possible Causes for Overfolded Superior Helix, Shawl Scrotum, Single Transverse Palmar Crease

  • Aarskog-Scott Syndrome

    PEDIATRIC UROLOGY Female counterpart of shawl scrotum in aarskog-scott syndrome Suzana G. Moraes; G. Guerra-Junior; A. T.[scielo.br] transverse palmar crease 0000954 Strabismus Cross-eyed Squint Squint eyes [ more ] 0000486 Talipes 0001883 1%-4% of people have these symptoms Broad philtrum 0000289 Global[rarediseases.info.nih.gov] Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Rubinstein-Taybi Syndrome

    ), an abnormal fold of skin extending around the base of the penis (shawl scrotum), and/or misplacement of the urinary opening, such as on the underside of the penis (hypospadias[rarediseases.org] 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] Genitourinary Tract Male infants with RSTS may have abnormalities of the genitourinary tract including failure of one or both testes to descend into the scrotum (cryptorchidism[rarediseases.org]

    Missing: Overfolded Superior Helix
  • Kaufman Oculocerebrofacial Syndrome

    Symptoms INHERITANCE: Autosomal dominant HEAD AND NECK: [Head]; Open metopic suture; [Face]; Midface hypoplasia; Micrognathia; [Ears]; Low-set ears; Overfolded superior helix[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]

  • Postaxial Oligodactyly, Tetramelic

    scrotum laxity dysplasiaFacies digito formFacio Rippberger typeFacio thoraco myoclonus AFactor VII XII XIII tube cancerFallot severe adenomatous aortic lumbago band striatal[borghesan.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] scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial Scheuermann disease Familial avascular necrosis of femoral head Familial[se-atlas.de]

    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: Shawl Scrotum
  • Mesoaxial Synostotic Syndactyly with Phalangeal Reduction

    scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial Scheuermann disease Familial avascular necrosis of femoral head Familial[se-atlas.de] transverse palmar crease 0000954 Symphalangism affecting the phalanges of the hallux Fused big toe bones 0010064 Showing of 19 Last updated: 5/1/2019 If you need medical[rarediseases.info.nih.gov] […] syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FGFR2-related bent bone dysplasia FRAXE intellectual disability Facial dysmorphism-shawl[se-atlas.de]

    Missing: Overfolded Superior Helix
  • X-Linked Syndromic Mental Retardation Type Chudley-Schwartz

    Scrotum-Joint Laxity Syndrome Faciocardiorenal Syndrome Familial Lambdoid Synostosis Fibulo-Ulnar Hypoplasia-Renal Anomalies Syndrome Fragile X Syndrome Frank-Ter Haar Syndrome[familydiagnosis.com] Single transverse palmar crease MedGen UID: 96108 • Concept ID: C0424731 • Finding A single transverse palmar crease is found in 5% of newborns and is frequently inherited[ncbi.nlm.nih.gov] -- Tables Table 1 Syndrome Common Manifestations Gene, Location Aarskog syndrome Short stature, hypertelorism, downslanting palpebral fissures, joint hyperextensibility, shawl[factpub.org]

    Missing: Overfolded Superior Helix
  • Polydactyly of a Biphalangeal Thumb

    scrotum-joint laxity syndrome Fallot complex-intellectual disability-growth delay syndrome Familial Scheuermann disease Familial avascular necrosis of femoral head Familial[se-atlas.de] Typical features of DS were noted, including hypotonia, brachycephaly, upslanting palpebral ï ssures, ï ‚at nasal bridge, low-set ears, a single transverse palmar crease[deepdyve.com] […] syndrome FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome FGFR2-related bent bone dysplasia FRAXE intellectual disability Facial dysmorphism-shawl[se-atlas.de]

    Missing: Overfolded Superior Helix
  • Odonto Tricho Ungual Digito Palmar Syndrome

    ' or 'shawl scrotum').[findzebra.com] transverse palmar creases first metacarpal hypoplasia prominent interdigital folds single thumb creases Head And Neck Face: prognathism Head And Neck Mouth: thick, coarse[malacards.org] See also Dermatoglyphics External links An example of a single transverse palmar crease[findzebra.com]

    Missing: Overfolded Superior Helix
  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.medscape.com] […] brachycephalic head, epicanthic folds, flat nasal bridge, upward slanting palpebral fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single[dx.doi.org]

    Missing: Overfolded Superior Helix Shawl Scrotum