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1,108 Possible Causes for Macrostomia, 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] […] 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]

  • Pitt-Hopkins Syndrome

    Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 1993; 29 (2) 156-157 3 Van Balkom ID, Quartel S, Hennekam RC.[doi.org] PubMed Google Scholar Singh HA: Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health. 1993, 29: 156-157. 10.1111/j.1440-1754.1993.tb00472.x.[ijponline.net] Singh HA (1993) Mental retardation, macrostomia and hyperpnoea syndrome. J Paediatr Child Health 29:156–157 [ PubMed ] [ Google Scholar ] 5.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • Pallister-Killian Syndrome

    […] syndrome presents with a recognizable pattern of findings including: pigmentary skin changes, characteristic facial features (sparse anterior scalp hair, flattened midface, macrostomia[ncbi.nlm.nih.gov] […] becomes more pronounced with age), prominent forehead, hypertelorism, upslanting palpebral fissures with epicanthal folds, small nose with upturned nares, high arched palate, macrostomia[molecularcytogenetics.biomedcentral.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] - Complete / partial microdontia - Epicanthic folds - Failure to thrive / difficulties for feeding in infancy / growth delay - High vaulted / narrow palate - Long face - Macrostomia[csbg.cnb.csic.es] 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]

  • Monosomy 21q

    Transverse Palmar Creases Extremities Joint Contractures Large Stiff Joints Acetabular Dysplasia Ulno-Fibular Dysostosis Calcaneocuboid Fusion Spine Supernumerary Or Butterfly[neo-genetics.com] Abdomen Inguinal Hernia Hand And Foot Talipes Equinovarus, Camptodactyly, Long And Slender Hands, Broad Feet, And Syndactyly Of The Toes Dermatoglyphic Defects Consist Of Single[neo-genetics.com]

    Missing: Overfolded Superior Helix
  • Postaxial Oligodactyly, Tetramelic

    […] lymphoplasmacytic, lymphoproliferative, lyngstadaas, M mac, maccario, mackay, maclean, macrencephaly, macrocephaly, macroglobulinemia, macroglossia, macrogyria, macrophagic, macrosomia, macrostomia[rapsodyonline.eurordis.org] 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] Mandibuloacral dysplasia Mandibuloacral dysplasia with type A lipodystrophy Mandibuloacral dysplasia with type B lipodystrophy Mandibulofacial dysostosis-macroblepharon-macrostomia[se-atlas.de]

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

    Hemifacial microsomia was unilateral and was associated with cleft lip, macrostomia, dental misalignment, large tongue and high arched palate.[scinapse.io] 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] Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say Syndromes. Am. J. Hum.[ncbi.nlm.nih.gov]

    Missing: Overfolded Superior Helix
  • BOD Syndrome

    transverse palmar crease Thin skin Dysostosis multiplex Highly arched eyebrow Dystonia Gait ataxia Growth hormone deficiency Long eyelashes Sparse hair Hepatomegaly Failure[mendelian.co] transverse palmar creases Specific learning disability Cerebellar hypoplasia Underdeveloped nasal alae Eclabion Limitation of joint mobility Hypodontia Atlantoaxial dislocation[mendelian.co] […] thumb Microretrognathia Laryngeal hypoplasia Postnatal microcephaly Small nail Fine hair Ambiguous genitalia Microdontia Joint hypermobility Macrogyria Fatigue Bilateral single[mendelian.co]

    Missing: Overfolded Superior Helix
  • Cri Du Chat Syndrome

    Some of the clinical characteristics became more evident such as long face, macrostomia, and scoliosis.[ncbi.nlm.nih.gov] 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] […] reduced muscle tone) certain facial characteristics: - rounded face - hypertelorism (widely spaced eyes) with downward slant to the eyes - low-set ears - broad nasal bridge - macrostomia[contact.org.uk]

    Missing: Overfolded Superior Helix
  • Trisomy 20

    […] tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia and macroglossia, minor anomalies of the ears, pigmentary[medical-dictionary.thefreedictionary.com] transverse palmar crease.[flandershealth.us] […] of the skin, dorsal kyphoscoliosis, and other skeletal defects. tri·so·my 20 syn·drome a chromosomal disorder characterized by profound mental retardation, coarse facies, macrostomia[medical-dictionary.thefreedictionary.com]

    Missing: Overfolded Superior Helix