Create issue ticket

407 Possible Causes for Duplication or Triplication of Phalanges, Single Transverse Palmar Crease, Wide Space Between the First and Second Toe

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[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]

    Missing: Duplication or Triplication of Phalanges
  • Ring Chromosome 10

    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] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.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: Duplication or Triplication of Phalanges
  • 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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • Kleiner Holmes Syndrome

    […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of[malacards.org] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov]

    Missing: Single Transverse Palmar Crease
  • Atelosteogenesis Type 2

    transverse palmar creases.[documents.tips] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] “Mongoloid” facies; simian (Latin simia : “ape”) crease (single transverse palmar); hypotonia; ligamentous laxity; instability of C1-C2 [A], hips [B], and patella; flat feet[musculoskeletalkey.com]

    Missing: Duplication or Triplication of Phalanges
  • 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] […] planus Flat feet Flat foot [ more ] 0001763 Round face Circular face Round facial appearance Round facial shape [ more ] 0000311 Short neck Decreased length of neck 0000470 Single[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • 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: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Polydactyly of a Biphalangeal Thumb

    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] […] which attach near the base of the proximal phalanx, sometimes articulating with the metacarpal head; duplication of whole thumb, comprising a metacarpal and two phalanges[docslide.net] This type may also be presented as triplicated thumb resulting in a total of seven digits (heptadactyly or septodactyly) (20).[docslide.net]

    Missing: Wide Space Between the First and Second Toe
  • Coffin-Lowry Syndrome

    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] Large lower jaw Prominent chin Prominent lower jaw [ more ] 0000303 Mitral regurgitation 0001653 Prominent supraorbital ridges Prominent brow 0000336 Rectal prolapse 0002035 Single[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Short Stature due to Endocrine Disorder

    transverse palmar crease 0000954 Truncal obesity 0001956 Percent of people who have these symptoms is not available through HPO Abnormality of metabolism/homeostasis Laboratory[rarediseases.info.nih.gov] 1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] […] delay 0001270 Myopia Close sighted Near sighted Near sightedness Nearsightedness [ more ] 0000545 Prominent forehead Pronounced forehead Protruding forehead [ more ] 0011220 Single[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges