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1,542 Possible Causes for High Arched Palate, 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] Kaufman type is characterized by psychomotor retardation, microcephaly, upslanting palpebral fissures, eye abnormalities (microcornea, strabismus, myopia, optic atrophy), high-arched[orpha.net] 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]

  • Down Syndrome

    Mouth: Protruding tongue (small narrow palate). High arched palate. Neck: Loose skin on nape of neck. Hands: Single palmar crease. Short little finger.[patient.info] transverse palmar crease, and short fifth finger with clinodactyly.[dx.doi.org] […] characteristic craniofacial features, such as an anteriorly and posteriorly flattened head, dysplastic low-set ears, small nose, depressed nasal bridge, protruding tongue, high-arched[symptoma.com]

    Missing: Overfolded Superior Helix
  • Rubinstein-Taybi Syndrome

    Craniofacial abnormalities including: microcephaly, underdeveloped maxilla, micrognathia, high arched palate, malocclusion, down-slanting palpebral fissures, thick eyelashes[ncbi.nlm.nih.gov] 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] (RTS) is a rare disorder affecting 1 of 300,000 people, characterized by growth, mental and motor retardation, small stature, broad thumbs and toes, characteristic face, high-arched[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Pallister-Killian Syndrome

    Oro-dental features, such as "Pallister lip," macroglossia, delayed eruption of primary teeth, high arched-palate, prognathism, and cleft palate have been occasionally reported[ncbi.nlm.nih.gov] […] scalp hair at birth high, arched palate hypopigmentation extra nipples cognitive and developmental delays.[pkskids.net] A characteristic occlusive phenotype was found: a high-arched palate with mandibular prognathism associated with an anterior openbite and crossbite and with posterior crossbite[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Gorlin-Chaudhry-Moss Syndrome

    Hypo- and microdontia with irregularly spaced teeth and a high arched palate are common features. Clefts of the soft palate has been observed.[disorders.eyes.arizona.edu] Anomalies of the extremities (hypoplastic distal phalanges, small/aplastic nails, cutaneous syndactyly, absent flexion crease of the thumbs, single transverse palmar creases[rarediseases.info.nih.gov] She also had synophrys, low set ears, a tuft of hair on her nose, cleft tip of the nose, thin upper lip, downtumed corners of the mouth, high arched palate, webbing between[nature.com]

    Missing: Overfolded Superior Helix
  • Zellweger Syndrome

    Macrocephaly or microcephaly, high arched palate, micrognathia and redundant neck skin folds may be present.[orpha.net] 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] Macrocephaly or microcephaly, a high-arched palate, protruding tongue or micrognathia, and redundant neck skin folds may be present.[ela-asso.com]

    Missing: Overfolded Superior Helix
  • Seckel Syndrome

    Cleft palate and high arched palate have been reported. Dental abnormalities such as poor enamel production, smaller and fewer teeth, and dental crowding, are common.[symptoma.com] 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] arched palate, tooth malformation, and other bone deformities.[rarediseases.about.com]

    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: High Arched Palate
  • Aarskog-Scott Syndrome

    Additional malformations have been described occasionally: short philtrum/upper lip, high-arched palate, cleft lip/palate, heart defects, hypospadias and inguinal and umbilical[orpha.net] 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]

    Missing: Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    palate Intellectual disability, severe Anteverted nares Short nose Highly arched eyebrow Micropenis Pneumonia Delayed eruption of teeth Severe short stature Wormian bones[mendelian.co] 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]

    Missing: Overfolded Superior Helix

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