The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

ORPHA:2835 Synonym(s): Zori-Stalker-Williams syndrome Prevalence: Inheritance: Unknown Age of onset: Neonatal ICD-10: - OMIM: 600399 UMLS: C2931302 MeSH: - GARD: 374 MedDRA: - The documents contained in this web site are presented for information purposes [orpha.net]

(Etiology) The exact cause of development of Zori Stalker Williams Syndrome is not known presently. [dovemed.com]

• Developmental Delay

  […] macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). [malacards.org]

  delay (that resolves during childhood). [orpha.net]

  Synonyms Pectus excavatum, macrocephaly and dysplastic nails Familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails Overview No overview is available at this time. [rarediseases.org]

  "A syndrome of familial short stature, developmental delay, pectus abnormalities, distinctive facies, and dysplastic nails". [en.wikipedia.org]

• Short Stature

  Short Stature Disorders ⌊ Short Stature Disorders with Mental Retardation ⌊ Short Stature Disorders with Facial Anomalies ⌊ Short Stature Deafness Neutrophil Dysfunction ⌊ Short Stature Contractures Hypotonia ⌊ Lumbar Malsegmentation Short Stature ⌊ Camptomelic [wellnessadvocate.com]

  From Wikidata Jump to navigation Jump to search No description defined PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS Zori-Stalker-Williams syndrome edit English Zori–Stalker–Williams syndrome No description defined PECTUS EXCAVATUM [wikidata.org]

  Stature, Dysplastic Nails - 600399 - Pectus Excavatum, Macrocephaly, Short Stature, Dysplastic Nails ^ Zori RT, Stalker HJ, Williams CA (1992). [en.wikipedia.org]

  […] macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during childhood). [malacards.org]

  Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails, [1] is a rare autosomal dominant [2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic [wikiwand.com]

• Developmental Disorder

  Disorder with Abnormal Behavior, Microcephaly, and Short Stature INTELLECTUAL DEVELOPMENTAL DISORDER WITH CARDIAC ARRHYTHMIA INTELLECTUAL DEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND BEHAVIORAL ABNORMALITIES INTELLECTUAL DEVELOPMENTAL DISORDER WITH [rgd.mcw.edu]

  Journal of Autism and Developmental Disorders, 49, 3685–3694. Acknowledgements We would like to thank the parents and children for the time they took to complete the registry. [angelmanregistry.info]

  Williams syndrome is a developmental disorder that affects many parts of the ... Additional signs and symptoms of Williams syndrome include ... ghr.nlm.nih.gov williams syndrome wikipedia wiki Sponsored Links [fireworks2017.com]

  Pallister-Killian mosaic syndrome is a developmental disorder that affects many parts of the body. [encyclopedia.pub]

  Developmental disorders of Williams syndrome. One in 18, people in the UK have Williams. Tracking techniques were applied in two tasks exploring attention to pictures. From free adult porn pic the Archives The. [turmoilposting.ga]

• Nail Abnormality

  Diagnosis NAIL ABNORMALITIES: DIAGNOSTIC WORKUP (Algorithmic Diagnosis of Symptoms and Signs) Focal abnormalities of one nail warrant a culture and sensitivity of any scrapings or exudates from the area, as well as an x-ray of the digit or extremity. [checkorphan.org]

• High Arched Palate

  Unusual features include long, thin face, often with a high forehead, down-slanting eyes, hooked or prominent nose, long philtrum, high arched palate, and prominent large ears. [findzebra.com]

  Some affected children are born with an opening in the roof of the mouth (cleft palate) or a high arched palate. Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. [encyclopedia.pub]

  […] and hypertonia (Wenger & McPherson 1997) Del 2p12-p11.2 Long face with high forehead, fine hair, telecanthus, down slanting palpebral fissures, large ears, broad and high nasal root with prominent tip, high palate, everted lower lip, arachnodactyly, [link.springer.com]

• Sparse Hair

  Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These areas may fill in as affected children get older. [encyclopedia.pub]

  […] delay, epiphyseal dysplasia, deafness (Armstrong 2003) Dandy-Walker syndrome – Cutis laxa, immunodeficiency: mental retardation, macrocephaly, coarse facies with hypertelorism, down-slanting palpebral fissures, long philtrum and large low set ears; sparse [link.springer.com]

  Microcephaly Deafness Syndrome Microcephaly Microphthalmos Blindness Microcephaly Nonsyndromal Microcephaly Pontocerebellar Hypoplasia Dyskinesia Microcephaly Seizures Genital Hypoplasia Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly Sparse [rgd.mcw.edu]

• Sparse Hair

  Most children with Pallister-Killian mosaic syndrome have sparse hair on their heads, particularly around the temples. These areas may fill in as affected children get older. [encyclopedia.pub]

  […] delay, epiphyseal dysplasia, deafness (Armstrong 2003) Dandy-Walker syndrome – Cutis laxa, immunodeficiency: mental retardation, macrocephaly, coarse facies with hypertelorism, down-slanting palpebral fissures, long philtrum and large low set ears; sparse [link.springer.com]

  Microcephaly Deafness Syndrome Microcephaly Microphthalmos Blindness Microcephaly Nonsyndromal Microcephaly Pontocerebellar Hypoplasia Dyskinesia Microcephaly Seizures Genital Hypoplasia Microcephaly Seizures Mental Retardation Heart Disorders Microcephaly Sparse [rgd.mcw.edu]

• Low Set Ears

  Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. [encyclopedia.pub]

  occipital plagiocephaly, large forehead, bilateral epicanthic folds, small bulbous nose with slightly anteverted nares, thin upper lip, dimpled chin, low set ears, oblique crease of the ear lobules, pectus excavatum, small umbilical hernia and single [link.springer.com]

• Visual Impairment

  impairment, and a hoarse voice; sometimes inherited in an autosomal recessive pattern. [medicine.academic.ru]

  […] creatine deficiency syndrome + Cerebral Visual Impairment and Intellectual Disability Cerebrocostomandibular Syndrome Cerebrofaciothoracic Dysplasia Cerebrooculofacioskeletal Syndrome + Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome [rgd.mcw.edu]

• Visual Impairment

  impairment, and a hoarse voice; sometimes inherited in an autosomal recessive pattern. [medicine.academic.ru]

  […] creatine deficiency syndrome + Cerebral Visual Impairment and Intellectual Disability Cerebrocostomandibular Syndrome Cerebrofaciothoracic Dysplasia Cerebrooculofacioskeletal Syndrome + Cerebrooculofacioskeletal Syndrome 2 Cerebrooculofacioskeletal Syndrome [rgd.mcw.edu]

• Macrocephaly

  Homepage Rare diseases Search Search for a rare disease Pectus excavatum-macrocephaly-dysplastic nails syndrome Disease definition Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by [orpha.net]

  From Wikidata Jump to navigation Jump to search No description defined PECTUS EXCAVATUM, MACROCEPHALY, SHORT STATURE, AND DYSPLASTIC NAILS Zori-Stalker-Williams syndrome edit English Zori–Stalker–Williams syndrome No description defined PECTUS EXCAVATUM [wikidata.org]

  GARD: 19 Pectus excavatum-macrocephaly-dysplastic nails syndrome is a rare multiple congenital anomalies syndrome characterized by relative macrocephaly, pectus excavatum, short stature, nail dysplasia, and motor developmental delay (that resolves during [malacards.org]

  Zori–Stalker–Williams syndrome, also known as pectus excavatum, macrocephaly, short stature and dysplastic nails,[1] is a rare autosomal dominant[2] congenital disorder associated with a range of features such as pectus excavatum, macrocephaly and dysplastic [en.wikipedia.org]

• Muscle Hypotonia

  Motor development is delayed due to muscle hypotonia and is associated with unusual clumsiness. [findzebra.com]

• Short Nose

  ADHD, anxiety, phobias, a short nose with a broad tip, full. It is an uncommon and complex disorder for which different medical experts have to. Also learn about the causes, risk factors, and treatment of shingles. [turmoilposting.ga]

  Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. [encyclopedia.pub]

  (Prontera 2009) Del 2q31.22- > q32.3 Moderate-severe mental retardation, short stature, rounded face with short nose and flattened nasal bridge, short metacarpals and metatarsals Del 2q37 Short stature, microcephaly, severe mental retardation, aortic [link.springer.com]

• Broad Nasal Bridge

  Characteristic facial features include a high, rounded forehead; a broad nasal bridge; a short nose; widely spaced eyes; low-set ears; rounded cheeks; and a wide mouth with a thin upper lip and a large tongue. [encyclopedia.pub]

  bridge and broad nasal tip, short philtrum, large ears. [link.springer.com]

• Hypertelorism

  microtia, facial clefting syndrome Hypertelorism, Severe, with Midface Prominence, Myopia, Mental Retardation, and Bone Fragility Hypertrichosis, Hyperkeratosis, Mental Retardation, and Distinctive Facial Features Hypogonadism with Low-Grade Mental [rgd.mcw.edu]

• Suggestibility

  Want to suggest a symptom? Please send suggestions to RareGuru! [rareguru.com]

  Male-to-male transmission in the family reported by Zori et al. (1992) suggested autosomal dominant inheritance. ▼ REFERENCES Zori, R. T., Stalker, H. J., Williams, C. A. [omim.org]

  Genetic imprinting suggested by maternal heterodisomy in nondeletion Prader-Willi syndrome. Nature 1989 ;342: 281 –5. 17. Knoll JHM, Nicholls RD, Magenis RE, Graham JM Jr, Lalande M, Latt SA.. [nejm.org]

  The typical EEG is often more abnormal than expected and it may suggest seizures when in fact there are none. [mertsahinoglu.com]

  Imprinting mutations suggested by abnormal DNA methylation patterns in familial Angelman and Prader-Willi syndromes. Am J Hum Genet 1994;54:741-7. Sutcliffe JS, Mitsuyoshi N, Christian S, et al. [angelmanproject.com]

• Fear

  Parent perceptions, beliefs, and fears around genetic treatments and cures for children with Angelman syndrome. American Journal of Medical Genetics Part A, 182, 1716–1724. Bailus, B. J., & Segal, D. J. (2014). [angelmanregistry.info]

• Anxiety Disorder

  disorder with social difficulties and speech delay(Bardakjian 2010). [link.springer.com]

• Profound Intellectual Disability

  Additional developmental delays result from intellectual disability, which is usually severe to profound. Speech is often limited or absent in people with this condition. [encyclopedia.pub]

• Asthenia

  […] post gave me: Achondroplasia, Acne, AIDS, Albinism, Alcoholic hepatitis, Allergy, Alopecia, Alzheimer's disease, Amblyopia, Amebiasis, Anemia, Aneurdu, Anorexia, Anosmia, Anotia, Anthrax, Appendicitis, Apraxia, Argyria, Arthritis, Aseptic meningitis, Asthenia [bungie.net]

Diagnosis NAIL ABNORMALITIES: DIAGNOSTIC WORKUP (Algorithmic Diagnosis of Symptoms and Signs) Focal abnormalities of one nail warrant a culture and sensitivity of any scrapings or exudates from the area, as well as an x-ray of the digit or extremity. [checkorphan.org]

The 22q11.2 deletion: screening, diagnostic workup, and outcome of results; report on 181 patients. Genet Test 1997; 1: 99–108. Article CAS Google Scholar Weinzimer SA, McDonald-McGinn DM, Driscoll DA, Emanuel BS, Zackai EH, Moshang Jr T. [nature.com]

We offer an alternative treatment process that centers around the idea of using your own adult stem cells as the basis of the treatment. [alternativetreatmentsfor.com]

There are two main types of clinical studies: Clinical trials determine if a new test or treatment for a disease is effective and safe by comparing groups receiving different tests/treatments. [rarediseases.info.nih.gov]

The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

(Outcomes/Resolutions) The prognosis of Zori Stalker Williams Syndrome is dependent upon the severity of the signs and symptoms and associated complications, if any Individuals with mild conditions have better prognosis than those with severe symptoms [dovemed.com]

Prognosis - Zori Stalker Williams syndrome Not supplied. Treatment - Zori Stalker Williams syndrome Not supplied. Resources - Zori Stalker Williams syndrome See Research Publications [checkorphan.org]

(Etiology) The exact cause of development of Zori Stalker Williams Syndrome is not known presently. [dovemed.com]

the pathway to diagnosis is not so clear, particularly when children demonstrate differential characteristics, commonly seen for those with UBE3A pathogenic variants (ubiquitin protein ligase EA3), imprinting defects or uniparental disomy (patUPD) etiology [angelmanregistry.info]

Williams syndrome: an historical perspective of its evolution, natural history, and etiology. Am J Med Genet Suppl. 1990;6:89-96. Holmstrom G, et al. The iris in Williams syndrome. Arch Dis Child. 1990;65:987-989. Giddins NG, et al. [rarediseases.org]

In contrast to the most important syndromes such as Marfan syndrome or Noonan syndrome that can be associated with a chest wall deformity and for which the causative genes are known, etiology of isolated chest wall deformities is still a matter of research [jpedsurg.org]

Discussion and conclusions Angelman syndrome is caused by the lack of expression of the maternal copy in neurons of the UBE3A gene due to four different molecular etiologies: Deletion of the 15q11.2-q13 region on the maternal chromosome, mutations in [bmcmedgenet.biomedcentral.com]

Urease influence also arrogate to the recruitment of neutro phils and monocytes in the mucosa and to the television of proinflammatory cytokines Molecular Epidemiology of Helicobacter pylori in Brazilian Patients with At Gastric Cancer and... 3 The using [nhha.org]

Segmentation anomalies of the vertebras and ribs: a developmental field defect: epidemiologic evidence. Am J Med Genet 1994; 49: 36–44 PubMed Google Scholar Mortier GR, Lachman RS, Bocian M, Rimoin DL. [link.springer.com]

Furthermore, elucidation of the pathophysiology of the hormonal disturbances may provide insights into the molecular mechanisms underlying the 22q11.2 deletion syndrome. [nature.com]

How can Zori Stalker Williams Syndrome be Prevented? Zori Stalker Williams Syndrome may not be preventable, since it is a genetic disorder. [dovemed.com]

Prevention - Zori Stalker Williams syndrome Not supplied. Diagnosis - Zori Stalker Williams syndrome Not supplied. Prognosis - Zori Stalker Williams syndrome Not supplied. Treatment - Zori Stalker Williams syndrome Not supplied. [checkorphan.org]

And are not intended to diagnose, treat, cure or prevent disease. The information presented is not intended to replace medical advice or treatment from your own doctor or healthcare provider. [wellnessadvocate.com]

IMALIVE Provides help with suicide intervention, prevention, awareness, and education and hope through online crisis chat, educational on-campus and virtual college events, and awareness campaigns. [rarediseases.info.nih.gov]