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1,802 Possible Causes for Overfolded Superior Helix, Round Face, Single Transverse Palmar Crease

  • 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] 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] face with widow's peak and, in one of them, ptosis of the eyelids.[ncbi.nlm.nih.gov]

    Missing: 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] face Circular face Round facial appearance Round facial shape [ more ] 0000311 Single transverse palmar crease 0000954 Subependymal cysts 0002416 Talipes equinovarus Club[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: 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] face-developmental delay syndrome Congenital joint dislocations Congenital knee dislocation Congenital limb malformation Congenital muscular dystrophy with cerebellar involvement[se-atlas.de] Het–Hex Hea–Hei Headache, cluster Hearing disorder Hearing impairment Hearing loss Heart aneurysm Heart attack Heart block progressive, familial Heart block Heart defect round[sosu.us]

    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: Round Face
  • Down Syndrome

    transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] Morphological features (upslanting palpebral fissures, epicanthus, flat neck, round face, small nose, bilateral single palmar crease) can be mild and do not constitute a hallmark[orpha.net] These include: A round face with a flat profile and small facial features (nose, mouth, ears, and eyes) Protruding tongue Almond-shaped upturned eyes with epicanthus folds[verywell.com]

    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: Round Face
  • 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] The main clinical features are short stature, round face with short philtrum, palpebral ptosis and large ears with detached pinnae.[ojrd.biomedcentral.com] 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
  • 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] face Normal height (with skeletal dysplasia) Abnormal clinical features of the limbs Absent/small nails Mandibular hyperostosis/sclerosis Abnormal hair texture Brittle hair[head-face-med.biomedcentral.com] (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
  • Micrognathism

    transverse palmar crease, telecanthus, micrognathism , macrocephaly, hypotonia and furrowed tongue.[eng.ichacha.net] XXXXX syndrome is associated with microcephaly (undersized skull), micrognathia (undersized jaw), and round face.[diki.pl] 소두증(microcephaly), 원형안모(round moon-shaped face), 양안격리(hypertelorism), 넓은 비교(broad nasal bridge), 안검열경사(downward slanting palpebral fissures), 소악증(micrognathia), 성장지연(growth[labmed.hallym.ac.kr]

    Missing: Overfolded Superior Helix
  • Cri Du Chat Syndrome

    transverse palmar crease 0000954 Small for gestational age Birth weight less than 10th percentile Low birth weight [ more ] 0001518 Sporadic No previous family history 0003745[rarediseases.info.nih.gov] It is characterized by a cat-like cry in infancy, microcephaly, mental retardation, growth failure, round face, hypertelorism, and cardiac failure An infantile syndrome characterized[icd9data.com] face, hypertelorism, broad nasal bridge, downward slanting palpebral fissures, and micrognathia.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix

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