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Hypospadias - Intellectual Disability Syndrome Type Goldblatt

Goldblatt-Wallis Syndrome


Presentation

  • Her originality is to combine approaches both in mice and humans presenting these palate and teeth developmental defects as clinical phenotypical manifestations of rare diseases.[books.google.com]
  • Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner.[whsmith.co.uk]
Disability
  • PubMed is a searchable database of medical literature and lists journal articles that discuss Hypospadias-intellectual disability, Goldblatt type syndrome. Click on the link to view a sample search on this topic.[rarediseases.info.nih.gov]
  • Crispian Scully is Past-President of the International Academy of Oral Oncology, European Association of Oral Medicine, British Society for Oral Medicine and British Society of Disability and Oral Health, he has served as Dean in Bristol and UCL; on the[books.google.com]
  • November 2016 - Number 1 34 ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 989 Hypoglossia-hypodactyly syndrome 47 Cases 2233 Hypogonadism-mitral valve prolapse-intellectual disability[azkurs.org]
  • The authors have extensive experience in the clinical and laboratory delineation of X-linked intellectual disability.[whsmith.co.uk]
Multiple Congenital Anomalies
  • […] intellectual deficit, Goldblatt type is a very rare multiple congenital anomalies syndrome described in three brothers of one South-African family, and characterized by hypospadias and intellectual deficit, in association with mirocephaly, craniofacial[rarediseases.info.nih.gov]
Physician
  • In-Depth Information The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers.[rarediseases.info.nih.gov]
Weakness
  • 0001249 Joint stiffness Stiff joint Stiff joints [ more ] 0001387 Microcephaly Abnormally small skull Decreased circumference of cranium Decreased size of skull Reduced head circumference Small head circumference [ more ] 0000252 Muscular hypotonia Low or weak[rarediseases.info.nih.gov]
Hyposmia
  • Hypoplastic pancreas-intestinal atresia-hypoplastic gallbalder syndrome 16 Cases ORPHA Number Disease or Group of diseases Estimated prevalence/incidence (/100,000) Number of published cases or families 98723 Hypoplastic right heart syndrome 3.3 BP * 2250 Hyposmia-nasal[azkurs.org]
Mitral Valve Prolapse
  • valve prolapse-intellectual disability syndrome 2 Cases 2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 6 Cases 2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 2 Cases 293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural[azkurs.org]
Low-Set Posteriorly Rotated Ears
  • , posteriorly rotated ears 0000368 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Overfolded helix Overfolded ears 0000396 Synophrys Monobrow Unibrow [ more ] 0000664 Trigonocephaly Triangular[rarediseases.info.nih.gov]
  • , posteriorly rotated ears 60 Frequent (79-30%) 13 overfolded helix 60 Frequent (79-30%) 14 midface retrusion 60 Frequent (79-30%) 15 convex nasal ridge 60 Frequent (79-30%) 16 abnormality of the palate 60 Frequent (79-30%) 17 synophrys 60 Frequent (79[malacards.org]
Joint Stiffness
  • Showing of 20 80%-99% of people have these symptoms Hypospadias 0000047 Intellectual disability Mental deficiency Mental retardation Mental retardation, nonspecific Mental-retardation [ more ] 0001249 Joint stiffness Stiff joint Stiff joints [ more ][rarediseases.info.nih.gov]
  • 60 33 Very frequent (99-80%) HP:0001249 2 microcephaly 60 33 Very frequent (99-80%) HP:0000252 3 hypospadias 60 33 Very frequent (99-80%) HP:0000047 4 trigonocephaly 60 33 Frequent (79-30%) HP:0000243 5 muscular hypotonia 60 Very frequent (99-80%) 6 joint[malacards.org]
Small Head
  • head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 30%-79% of people have these symptoms Abnormal palate morphology Abnormality of the palate Abnormality of the roof of the mouth [ more ] 0000174 Abnormal toenail morphology[rarediseases.info.nih.gov]
  • head circumference [ more ] 0000252 Muscular hypotonia Low or weak muscle tone 0001252 30%-79% of people have these symptoms Abnormal fingernail morphology Abnormal fingernails Abnormality of the fingernails [ more ] 0001231 Abnormal palate morphology[rarediseases.info.nih.gov]
Beak Nose
  • nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Low-set, posteriorly rotated ears 0000368 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Overfolded helix Overfolded[rarediseases.info.nih.gov]
Beaked Nose
  • nose Beaklike protrusion Hooked nose Polly beak nasal deformity [ more ] 0000444 Low-set, posteriorly rotated ears 0000368 Midface retrusion Decreased size of midface Midface deficiency Underdevelopment of midface [ more ] 0011800 Overfolded helix Overfolded[rarediseases.info.nih.gov]

Treatment

  • You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.[rarediseases.info.nih.gov]

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