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513 Possible Causes for Duplication or Triplication of Phalanges, High Pitched Voice, 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] Other notable features are a high-pitched voice, gastrointestinal irritation (presenting as diarrhea), the presence of eczema, genital disorders (cryptorchidism, hypospadias[symptoma.com]

    Missing: Duplication or Triplication of Phalanges
  • 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] 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]

    Missing: Duplication or Triplication of Phalanges
  • Kleiner Holmes Syndrome

    […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Widely spaced 1st-2nd toes Widely spaced first and second toes[rarediseases.info.nih.gov] Radiographs show broad, shortened, misshapen first metatarsals and may associate incomplete or complete duplication of proximal phalanges and duplication or triplication of[malacards.org] […] gap between first and second toes Wide space between 1st, 2nd toes Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first[rarediseases.info.nih.gov]

    Missing: High Pitched Voice
  • Seckel Syndrome Type 2

    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] 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] Wide space between first and second toes Wide-spaced big toe Widely spaced 1st-2nd toes Widely spaced first and second toes Widened gap 1st-2nd toes Widened gap first and[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges
  • 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] 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] People with Bloom syndrome have a high pitched voice and unique facial features, including a long narrow face, a small jaw, and large ears and nose.[diseaseinfosearch.org]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Mulibrey Nanism Syndrome

    pitched voice * Hypodontia of second bicuspid * Growth retardation Causes - Mulibrey Nanism syndrome Not supplied.[checkorphan.org] The patient had short stature and high-pitched voice with the same characteristic craniofacial features as his sibling. Psychomotor development was normal.[academic.oup.com] 161 cm for males and from 126 to 151 cm for females Delayed puberty Hands and feet appear relatively large in relation to body Intrauterine growth deficiency Performance High-pitched[datagenno.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Spinocerebellar Ataxia Type 20

    […] sounds 0001618 High pitched voice 0001620 Limb ataxia 0002070 Nystagmus Involuntary, rapid, rhythmic eye movements 0000639 Palatal myoclonus 0010530 Postural tremor 0002174[rarediseases.info.nih.gov] […] who have these symptoms is not available through HPO Adult onset Symptoms begin in adulthood 0003581 Autosomal dominant inheritance 0000006 Dysphonia Inability to produce voice[rarediseases.info.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Hypogonadism

    Adolescent boys with hypogonadism typically have undeveloped muscles and genitals, a high-pitched voice, and little or no body hair.[patients.uroweb.org] A high-pitched voice, breasts, little body hair, and smaller muscle mass are all things typically associated with women.[study.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • X-linked Hypogonadotropic Hypogonadism without Anosmia

    Gonadotropin deficiency frequently manifests in puberty, when boys present with eunuchoid body proportions but normal height, a high-pitched voice, prepubertal testes, and[symptoma.com] Here, boys present with eunuchoid body proportions, a high-pitched voice, prepubertal testes, and delayed penile growth, while lack of menstrual bleeding is the clinical hallmark[symptoma.com]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe
  • Congenital Muscular Dystrophy

    J Hum Genet. 2017 Nov;62(11):945-948. doi: 10.1038/jhg.2017.71. Epub 2017 Jul 6. Author information 1 Division of Molecular Brain Science/Neurology, Kobe University Graduate School of Medicine, Kobe, Japan. 2 Institute of Medical Genetics, Tokyo Women's Medical University, Tokyo, Japan. 3 Department of Pediatrics, Kobe[…][ncbi.nlm.nih.gov]

    Missing: Duplication or Triplication of Phalanges Wide Space Between the First and Second Toe

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