Create issue ticket

843 Possible Causes for Joint Range of Motion Increased, Overfolded Superior Helix, Single Transverse Palmar Crease

  • 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]

  • Rubinstein-Taybi Syndrome

    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] Surgery resulted in complete pain relief, increased knee range of motion and marked improvement in the patient's gait.[ncbi.nlm.nih.gov] Self-mutilation Deliberate self-harm Self mutilation [ more ] 0000742 Shawl scrotum 0000049 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Aarskog-Scott Syndrome

    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] Sporadic Symptoms Round face and a shorter neck, epicanthic folds, maxillary hypoplasia, which causes several facial abnormalities, and single transverse palmar crease may[news-medical.net] […] move beyond expected range of motion 0005692 Long philtrum 0000343 Low-set, posteriorly rotated ears 0000368 Ptosis Drooping upper eyelid 0000508 Wide nasal bridge Broad[rarediseases.info.nih.gov]

    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]

    Missing: Joint Range of Motion Increased
  • Distal Symphalangism

    transverse palmar crease Symptoms // Phenotype % cases Autosomal recessive inheritance Uncommon - Between 30% and 50% cases Bilateral single transverse palmar creases Uncommon[mendelian.co] Summary of the Patients ROM: range of motion, Rt: right, Lt: left, PIP: proximal interphalangeal, IP: interphalangeal, DIP: distal interphalangeal.[pc.ecios.org] (29-5%) 20 tall stature 33 HP:0000098 21 short 1st metacarpal 33 HP:0010034 22 broad foot 33 HP:0001769 23 single transverse palmar crease 33 HP:0000954 24 camptodactyly[malacards.org]

    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: Joint Range of Motion Increased Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    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] transverse palmar crease Radial deviation of finger Broad hallux Cleft upper lip Gastrointestinal dysmotility Postnatal macrocephaly Microtia, first degree Branchial fistula[mendelian.co]

    Missing: Joint Range of Motion Increased Overfolded Superior Helix
  • Neurogenic Arthrogryposis Multiplex Congenita

    transverse palmar crease 0000954 Stiff shoulders 0009742 Trismus Lockjaw 0000211 Ulnar deviation of the hand or of fingers of the hand 0001193 Showing of 30 Last updated:[rarediseases.info.nih.gov] In these cases, surgery may be recommended to achieve better positioning and increase the range of motion in certain joints.[rarediseases.info.nih.gov] transverse palmar crease Arachnodactyly Pectus carinatum Kyphoscoliosis Long philtrum Talipes equinovarus Pain Bruising susceptibility Soft skin Scarring Tremor Cataract[mendelian.co]

    Missing: Overfolded Superior Helix
  • Seckel Syndrome

    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] […] nasal size Increased size of nose Large nose Pronounced nose [ more ] 0000448 Proportionate short stature 0003508 Seizures Seizure 0001250 Selective tooth agenesis 0001592 Single[rarediseases.info.nih.gov]

    Missing: Joint Range of Motion Increased Overfolded Superior Helix
  • Zellweger Syndrome

    transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club feet Club foot Clubfeet Clubfoot [ more ] 0001762 Ulnar deviation of the hand 0009487[rarediseases.info.nih.gov] […] bottom foot Rocker bottom feet Rocker-bottom feet Rockerbottom feet [ more ] 0001838 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single[rarediseases.info.nih.gov]

    Missing: Joint Range of Motion Increased Overfolded Superior Helix