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2,632 Possible Causes for High Pitched Voice, Multiple Congenital Anomalies, Wide Space Between the First and Second Toe

  • Dubowitz Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] Speech delays, an unusually soft, high-pitched voice, submucous cleft palate, and velopharyngeal insufficiency were noted in childhood.[ncbi.nlm.nih.gov] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.com]

  • Mulibrey Nanism Syndrome

    pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org] ZWS causes multiple congenital anomalies dominated by a typical craniofacial dysmorphism, including a high forehead, a large anterior fontanelle, hypoplastic supraorbital[emedicine.medscape.com] congenital anomalies.[clincancerres.aacrjournals.org]

    Missing: Wide Space Between the First and Second Toe
  • Seckel Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] She also displayed high-pitched voice. The age of menarche was 15 years. She had regular menstrual cycles.[termedia.pl] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?index 583[rarediseases.org]

  • Russell-Silver Syndrome

    1st and 2nd toes Gap between first and second toe Increased space between first and second toes Sandal gap between first and second toes Wide space between 1st, 2nd toes[rarediseases.info.nih.gov] congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome, malformation syndrome with short stature, polymalformative genetic syndrome with increased[commons.wikimedia.org] […] palate · small, crowded teeth · low-set, posteriorly rotated &/or prominent ears · unusually, high-pitched voice in early years · clinodactly (inward curving) of the 5th[coltongeorge.com]

  • Seckel Syndrome Type 2

    pitched voice 0001620 Percent of people who have these symptoms is not available through HPO 11 pairs of ribs 0000878 Abnormal finger flexion creases 0006143 Abnormality[rarediseases.info.nih.gov] Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes. nd. 3pp. www.nlm.nih.gov/cgi/jablonski/syndrome_cgi?[rarediseases.org] congenital anomalies-hypotonia-seizures syndrome type 1 PIGN Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects B3GAT3 Myhre[centogene.com]

  • Down Syndrome

    A wide space, often with a deep fissure between the first and second toes, is also common.[dx.doi.org] spacing, often with a deep plantar groove between the first and second toes.[dx.doi.org] […] fissures, Brushfield spots, small mouth, small ears, excessive skin at the nape of the neck, single transverse palmar crease, and short fifth finger with clinodactyly and wide[dx.doi.org]

    Missing: High Pitched Voice
  • Cri Du Chat Syndrome

    The patient presented with a persistent high-pitched voice unchanged since birth and a breathy dysphonia.[ncbi.nlm.nih.gov] A female infant presented at birth with hypotonia, growth retardation, distinctive facies, multiple congenital anomalies, and a high-pitched mewing cry characteristic of cri[ncbi.nlm.nih.gov] congenital anomalies, intellectual disability, microcephaly, and facial dysmorphism.[orpha.net]

    Missing: Wide Space Between the First and Second Toe
  • Pfeiffer-Palm-Teller Syndrome

    Voice Annotation Sufficiency: ?[monarchinitiative.org] […] and Genetic Diseases ; Nervous System Diseases Source: GARD (NIH) 2 Categories Category of Pfeiffer Palm Teller syndrome : arthropathy dental enamel hypoplasia Multiple congenital[familydiagnosis.com] congenital anomaly syndrome.[mendelian.co]

    Missing: Wide Space Between the First and Second Toe
  • Bloom Syndrome

    Bloom syndrome listen (… SIN-drome) A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice,[cancer.gov] Gatti x Published: June 3, 2014 Abstract Dubowitz syndrome is a rare disorder characterized by multiple congenital anomalies, cognitive delay, growth failure, an immune defect[journals.plos.org] People with Bloom syndrome are much smaller than average, and often have a high-pitched voice and characteristic facial features including a long, narrow face; small lower[hon.ch]

    Missing: Wide Space Between the First and Second Toe
  • Fraser Syndrome

    No focal neurological deficits were evident although it was noted that the patient wore a hearing aid and had a high-pitched voice.[academic.oup.com] This group will include 50% with chromosomal disorders congenital anomaly syndromes, especially recognizable by performing a karyotype, the details about their features and[books.google.de] Cryptophthalmos refers to a group of uncommon congenital anomalies of eyelid formation that can occur alone or in combination with multiple congenital anomalies as part of[ncbi.nlm.nih.gov]

    Missing: Wide Space Between the First and Second Toe

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