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781 Possible Causes for High Pitched Voice, Overfolded Superior Helix, Single Transverse Palmar Crease

  • 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] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] […] 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: Overfolded Superior Helix
  • Microcephalic Osteodysplastic Primordial Dwarfism Type II

    transverse palmar crease ; Sloping forehead ; Small anterior fontanelle ; Sparse and thin eyebrow ; Sparse eyelashes ; Sparse scalp hair ; Stillbirth ; Tetralogy of Fallot[mousephenotype.org] Intrauterine development Intrauterine growth retardation Neurologic Abnormality Developmental delay (mild-severe) Infarcts Moyamoya disease Multiple aneurysms Performance High-pitched[datagenno.com] Short stature Small head size Abnormal hip development (hip dysplasia) Spine curvature (scoliosis) Thinning of arm and leg bones high pitched voice Indentifiable facial features[littlepeopleuk.org]

    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] pitched voice Multiple joint contractures Congenital contracture Unsteady gait Dolichocephaly Hypocalcemia Aniridia Cloverleaf skull Lethal skeletal dysplasia Decreased skull[mendelian.co] 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
  • Opitz-Kaveggia Syndrome

    Single transverse palmar creases and short hands and fingers have been less commonly observed in affected individuals [ Risheg et al 2007 ].[ncbi.nlm.nih.gov] […] umbilical artery, single transverse palmar creases, and hypotonia.[nature.com] […] slit-like eyes” small, low-set ears, stenotic auditory canals, small chin, prominent occiput, Grade II harsh systolic cardiac murmur, left cryptorchidism, diastasis recti, single[nature.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 Pitched Voice
  • Microcephalic Osteodysplastic Primordial Dwarfism Types 1 and 3

    transverse palmar creases 0007598 Brachydactyly Short fingers or toes 0001156 Broad distal phalanx of finger Broad outermost finger bone 0009836 Bulbous nose 0000414 Delayed[rarediseases.info.nih.gov] Other signs and symptoms of MOPD2 may include hip dysplasia; thinning of the bones in the arms and legs; scoliosis ; shortened wrist bones; a high-pitched voice; distinctive[globalgenes.org] […] palate ; High pitched voice ; Hip contracture ; Hypermetropia ; Hypoplasia of the capital femoral epiphysis ; Hypoplastic ischia ; Hypoplastic pubic bone ; Hypospadias ;[mousephenotype.org]

    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] (brachydactyly, clubbing, clinodactyly, short thumbs, prominent joints, clavicular abnormalities); severe receptive and expressive language impairment; hypernasality and high-pitched[ncbi.nlm.nih.gov] Self-mutilation Deliberate self-harm Self mutilation [ more ] 0000742 Shawl scrotum 0000049 Short attention span Poor attention span Problem paying attention [ more ] 0000736 Single[rarediseases.info.nih.gov]

    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: High Pitched Voice
  • Pfeiffer-Palm-Teller Syndrome

    transverse palmar crease Cafe-au-lait spot Otitis media Poor suck Recurrent otitis media Pulmonary arterial hypertension Dental crowding Depressivity Gait disturbance Ataxia[mendelian.co] Voice Annotation Sufficiency: ?[monarchinitiative.org] Teller: A syndrome of short stature, amimic facies, enamel hypoplasia, slowly progressing stiffness of the joints and high-pitched voice in two siblings.[whonamedit.com]

    Missing: Overfolded Superior Helix
  • Laron Syndrome with Immunodeficiency

    transverse palmar crease Short distal phalanx of finger Pulmonary hypoplasia Abnormal cardiac septum morphology Blepharophimosis Abnormality of the pinna Hypospadias Bicuspid[mendelian.co] Patients may have a high-pitched voice and present truncal obesity.[symptoma.com] The sibs showed the typical clinical features of Laron syndrome: they were very short and obese, had acromicria, small genitalia (in the boys), and a high-pitched voice.[cags.org.ae]

    Missing: Overfolded Superior Helix

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