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]
Patients typically present clinical symptoms between the ages of… Continue Reading BridgeBio Pharma Raises 299 Million January 23, 2019 By Daniel S. [globalgenes.org]
Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and steroid replacement therapy commenced. [mendelian.co]
Clinical and laboratory data on 150 syndromes are presented in a concise and consistent manner. [whsmith.co.uk]
Entire Body System
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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]
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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]
congenital anomaly disorder characterized by severely delayed psychomotor development resulting in mental retardation, as well as variable eye, brain, cardiac, and palatal abnormalities (summary by Basel-Vanagaite et al., 2015 ). [mendelian.co]
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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]
Congenital onset Breech presentation Large fontanelles Adducted thumb Severe muscular hypotonia Abnormality of the thorax Hypokinesia Facial diplegia Nemaline bodies Type 1 muscle fiber predominance Increased connective tissue Premature birth Axial muscle weakness [mendelian.co]
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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]
Respiratoric
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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]
Skin
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Sparse Eyebrows
[…] pinna Nephronophthisis Highly arched eyebrow Prominent nasal bridge Molar tooth sign on MRI Retinopathy Aplasia/Hypoplasia of the cerebellum Polydactyly Sparse hair Congenital cataract Everted lower lip vermilion Microcornea Tented upper lip vermilion Sparse [mendelian.co]
Ears
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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]
Musculoskeletal
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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]
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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]
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Muscle Weakness
Congenital onset Breech presentation Large fontanelles Adducted thumb Severe muscular hypotonia Abnormality of the thorax Hypokinesia Facial diplegia Nemaline bodies Type 1 muscle fiber predominance Increased connective tissue Premature birth Axial muscle [mendelian.co]
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Torticollis
Staphylococcal necrotizing pneumonia Subacute sclerosing leukoencephalitis Sudden infant death-dysgenesis of the testes syndrome Syndromic multisystem autoimmune disease due to Itch deficiency Syndromic urogenital tract malformation Thrombotic microangiopathy Torticollis-keloids-cryptorchidism-renal [se-atlas.de]
Face, Head & Neck
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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]
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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]
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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]
Food and Drug Administration has chosen Wave Life Sciences’ planned phase 2/3 study of suvodirsen, its lead experimental therapy for the treatment of Duchenne muscular dystrophy, to break new ground. [globalgenes.org]
Treatment Please input treatment information here. You can also add sub-section(s) at will. Labs working on this disease Please input related labs here. References Please input treatment information here. [pediascape.org]
Etiology
Synonyms goldblatt-wallis syndrome hypospadias - intellectual disability, goldblatt type Etiology Please input defination information here. Diagnosis Please input defination information here. Symptoms Please input defination information here. [pediascape.org]