Create issue ticket

1,753 Possible Causes for Low Set Ears, Overfolded Superior Helix, Single Transverse Palmar Crease

  • 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] Affiliated tissues include eye, skin and brain, and related phenotypes are hypertelorism and low-set ears Genetics Home Reference : 25 Kaufman oculocerebrofacial syndrome[malacards.org]

  • 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] […] hypoplasia) A broad nose Protruding nostrils (nares) An abnormally prominent brow Down-slanting eyelid folds (palpebral fissures) Widely spaced eyes (hypertelorism) Large low-set[inman.moneomed.com]

  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] […] variable from individual to individual and may include mental retardation, retarded growth, flat hypoplastic face with short nose, prominent epicanthic skin folds, small low-set[icd9data.com] transverse palmar creases ( 60% of patients) Joint hyperextensibility or hyperflexibility Neuromuscular hypotonia Diastasis recti Dry skin Premature aging Congenital heart[emedicine.com]

    Missing: Overfolded Superior Helix
  • 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] […] 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[medical-dictionary.thefreedictionary.com] 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[symptoma.com]

    Missing: Overfolded Superior Helix
  • Aarskog-Scott Syndrome

    Low-set ears and thickened, fleshy earlobes. Delayed eruption of teeth Underdevelopment of the hard outer covering of teeth (enamel hypoplasia).[medcaretips.com] 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] […] involving thick low-set ears with fleshy earlobes, wide nasal bridge, long philtrums, cognitive impairment, and hyperextensible skin are some frequent symptoms.[news-medical.net]

    Missing: Overfolded Superior Helix
  • Branchio-Oculo-Facial Syndrome

    […] with hypoplastic superior helix, posterior and preauricular pit, supraauricular sinuses, conductive hearing loss secondary to fusion of the middle ear ossicles), the eyes[accessanesthesiology.mhmedical.com] Left postaxial polydactyly, bilateral single transverse palmar creases were present with absent interphalangeal creases on both thumbs.[indianpediatrics.net] We report a 2-month-old boy with bilateral branchial cleft anomalies, low-set ears, and hydronephrosis who tested positive for a mutation in the TFAP2A gene (A256V) implicated[ncbi.nlm.nih.gov]

  • Micrognathism

    transverse palmar crease, telecanthus, micrognathism, macrocephaly, hypotonia and furrowed tongue.[eng.ichacha.net] Such craniofacial features often include an unusually small head (microcephaly), malformed or low-set ears, and/or a small jaw ( micrognathia ).[diki.pl] […] anomalies "'( "'MPA "'s ) are relatively minor ( typically painless and, in themselves, harmless ) congenital physical abnormalities consisting of features such as low-set ears, single[eng.ichacha.net]

    Missing: Overfolded Superior Helix
  • Wolf-Hirschhorn Syndrome

    [ncbi.nlm.nih.gov] Single Transverse Palmar Crease transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia[symptoma.com] ears.[ncbi.nlm.nih.gov] transverse palmar crease, broad hands, fifth digit clinodactyly), joint hyperflexibility, redundant neck skin, pelvic dysplasia, wide gap between first and second toes (sandal[pathophys.org]

    Missing: Overfolded Superior Helix
  • 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] Affiliated tissues include heart and testes, and related phenotypes are hypertelorism and low-set ears[malacards.org] […] lobes prominent ear lobules [ more ] 0009748 Long philtrum 0000343 Low-set ears Low set ears Lowset ears [ more ] 0000369 Micrognathia Little lower jaw Small jaw Small lower[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix
  • Stuve-Wiedemann Syndrome

    transverse palmar crease 0000954 Square face Square facial shape 0000321 Talipes 0001883 Talipes valgus 0004684 Thin ribs Slender ribs 0000883 Thin skin 0000963 Tibial bowing[rarediseases.info.nih.gov] […] muscle tone [ more ] 0001290 Hoarse voice Hoarseness Husky voice [ more ] 0001609 Hypoplastic iliac body 0008824 Low-set ears Low set ears Lowset ears [ more ] 0000369 Malar[rarediseases.info.nih.gov] […] palpebral fissure Short opening between the eyelids 0012745 Short phalanx of finger Short finger bones 0009803 Short tibia Short shinbone Short skankbone [ more ] 0005736 Single[rarediseases.info.nih.gov]

    Missing: Overfolded Superior Helix

Similar symptoms