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416 Possible Causes for Hyperconvex Fingernails, 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] The fingernails may be markedly hyperconvex. Flat feet and shortening of one of the lower limbs may occur and contribute to accentuate the clumsy, waddling gait ().[jped.com.br]

  • 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] 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] […] nose, flat nasal bridge, flat face, small dysplastic pinnae, protruding tongue Cardiac : congenital heart defects ( AVSD , VSD, Tetralogy of Fallot, ASD, PDA) MSK : hands (single[pathophys.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]

    Missing: Hyperconvex Fingernails
  • Patau Syndrome

    A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.com] A single transverse palmar crease, polydactyly, and hyperconvex narrow fingernails are also common.[merckmanuals.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: Hyperconvex Fingernails 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] […] 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: Hyperconvex Fingernails Overfolded Superior Helix
  • Congenital Non-Neoplastic Nevus

    Q82.8 or Q84.8 Vaginal or hymenal tags Q82.8 or Q84.8 Single transverse palmar crease Q82.80 Anal tag Q82.81 Skin tag Q82.81 Unusual dermatoglyphics Q82.84 Absent nipple[cdc.gov] fingernails Q84.6 Hyperconvex toenails Q84.6 Hypoplastic fingernails Q84.6 Hypoplastic toenails Q84.6 Thickened toenails Q84.6 Aplasia cutis (major if large) Q84.8 Top of[cdc.gov] Extra or absent hand or interphalangeal creases Q82.8 or Q84.8 Pilonidal or sacral dimple Q82.8 or Q84.8 Plantar furrow Q82.8 or Q84.8 Rectal fissure Q82.8 or Q84.8 Sole crease[cdc.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] 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: Hyperconvex Fingernails Overfolded Superior Helix
  • Absent Thumb - Short Stature - Immunodeficiency Syndrome

    transverse palmar crease Brachycephaly Coma Respiratory insufficiency Anteverted nares Craniosynostosis Wide nasal bridge Hypertension Epicanthus Visual impairment Anal atresia[mendelian.co] transverse palmar crease -Complete atrioventricular canal VSD ASD -Duodenal atresai, hirschsprung disease -earlyonset AD -Hypothyroidism, DMI -Atlantoaxial instability CAH[quizlet.com] transverse palmar crease, characteristic facial appearance (epicanthal folds, upslanting palpebral fissures, protruding tongue) Leukemia : CBC annually, consider BM evaluation[hematology.org]

    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: Hyperconvex Fingernails Overfolded Superior Helix