Symptoma

Monosomy 1p36 Syndrome

1p36 Deletion Syndrome

Hypogonadism, present in both males and females, manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility. [ncbi.nlm.nih.gov]

They present with features of monosomy 1p36, including developmental delay and mental retardation, dysmorphic features, hypotonia, behavioral abnormalities including hyperphagia, and seizures. [einstein.pure.elsevier.com]

Atypical Presentation of Juvenile Rheumatoid Arthritis in a Patient with Monosomy 1p36 David C. Tapscott, Anjali Patwardhan. [scopemed.org]

  • Weight Gain

    Excessive weight gain and obesity may be seen in adolescence and approximately 90% of children may be overweight or obese by the age of 14. [rarediseases.org]

  • Collapse

    Chromoanagenesis is a mechanism by which a cell responds to a collapsed DNA replication fork by generating a double-strand break followed by DNA synthesis, during which templates are switched repeatedly [Holland and Cleveland, 2012]. [karger.com]

  • Hypertrophic Pyloric Stenosis

    Other abnormalities reported in a few individuals with 1p36 deletion syndrome include the following: Hypertrophic pyloric stenosis Anteriorly placed or imperforate anus, hooked or bilobed gallbladder, and small spleen [ Battaglia et al 2008 ] Differential [ncbi.nlm.nih.gov]

    2005) Hypertrophic pyloric stenosis Anteriorly placed or imperforate anus, hooked or bilobed gallbladder, and small spleen (Battaglia et al., 2008) Neuroblastoma (Laureys et al., 1990, Biegel et al., 1993, Anderson et al., 2001) - Pemphigus vulgaris [google.ch]

  • Hirsutism

    A detailed investigation of hirsutism in a Turkish population: idiopathic hyperandrogenemia as a perplexing issue. [ijsciences.com]

    […] nerve paralysis 0006824 Cryptorchidism Undescended testes Undescended testis [ more ] 0000028 Dilated cardiomyopathy Stretched and thinned heart muscle 0001644 Foot polydactyly Duplication of bones of the toes 0001829 Frontal bossing 0002007 Generalized hirsutism [rarediseases.info.nih.gov]

  • Asymmetry of the Ears

    Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger ( 64%) Low-set ears, ear asymmetry ( 59%) Thickened ear helices ( 53%) Small [en.wikibooks.org]

    […] of the ears Asymmetric ears 0010722 Bicuspid aortic valve Aortic valve has two leaflets rather than three 0001647 Ebstein anomaly of the tricuspid valve 0010316 Hypermetropia Farsightedness Long-sightedness [ more ] 0000540 Myopia Close sighted Near [rarediseases.info.nih.gov]

  • Short Fifth Finger

    fifth finger Short fifth fingers Short little finger Short pinkie finger Short pinky finger [ more ] 0009237 Thickened helices 0000391 Ventricular septal defect Hole in heart wall separating two lower heart chambers 0001629 Wide anterior fontanel Wider-than-typical [rarediseases.info.nih.gov]

    Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger ( 64%) Low-set ears, ear asymmetry ( 59%) Thickened ear helices ( 53%) Small [en.wikibooks.org]

    fifth fingers or fifth finger clinodactyly, 2 4 9 17 camptodactyly, 11 17 and small hands and feet 9 11 13 were noted in some patients. [jmg.bmj.com]

  • Manipulative Behavior

    A specific behavior phenotype with temper tantrums, stubbornness, rigidity, stealing, lying, manipulative behavior, and obsessive-compulsive characteristics is common. [ncbi.nlm.nih.gov]

  • Large Anterior Fontanels

    anterior fontanelle, or the anterior fontanelle may close late. [5] Other congenital defects [ edit ] Skeletal [ edit ] Short feet, brachydactyly (short fingers), and camptodactyly (permanent flexion of a finger), fifth finger clinodactyly (abnormal [en.wikipedia.org]

    Terminal deletions of the short arm of chromosome 1 are associated with hypotonia and developmental delay (usually severe), growth abnormalities (growth retardation, microcephaly, obesity), and craniofacial dysmorphism with a large anterior fontanelle [jmg.bmj.com]

    However, some features seen in at least one of the four reported patients were not observed in our patient, including large anterior fontanelle, brachycephaly, short neck, flat nasal bridge, posteriorly rotated ears, pointed chin, micrognathia, small [enlivenarchive.org]

    Distinct facial features including: Large anterior fontanel ( 100% of patients) Small and pointed chin ( 80%) Flat nasal bridge ( 65%) Clinodactyly and/or short fifth finger ( 64%) Low-set ears, ear asymmetry ( 59%) Thickened ear helices ( 53%) Small [en.wikibooks.org]

  • Tremor

    Autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, and acquired microcephaly also occur. [ncbi.nlm.nih.gov]

  • Tremulousness

    Angelman syndrome (AS) is characterized by severe developmental delay/intellectual disability, severe speech impairment, gait ataxia and/or tremulousness of the limbs, and a unique behavior with an inappropriate happy demeanor that includes frequent laughing [ncbi.nlm.nih.gov]

  • Gait Ataxia

    Autistic features, panic-like attacks, bruxism, episodic apnea and/or hyperpnea, gait ataxia and apraxia, tremors, and acquired microcephaly also occur. [ncbi.nlm.nih.gov]

  • Stereotypic Hand Movements

    The hallmark of the disease is the loss of purposeful hand use and its replacement with repetitive stereotyped hand movements. [ncbi.nlm.nih.gov]

  • Unable to Walk

    He was unable to walk and had no expressive language. Cytogenetic analysis identified 1p36.33-pter deletion ( 139 Mb terminal deletion in chromosome 1 short arm) and Y chromosome duplication. [ncbi.nlm.nih.gov]

Clinical Testing and Workup In the past, a specific chromosomal study known as G-band analysis, which demonstrates missing (deleted) material on chromosome 17p, was used to help obtain a diagnosis of SMS. [rarediseases.org]

  • Hypsarrhythmia

    […] height [ more ] 0000218 Hydrocephalus Too much cerebrospinal fluid in the brain 0000238 Hypertelorism Wide-set eyes Widely spaced eyes [ more ] 0000316 Hypoplasia of the corpus callosum Underdevelopment of part of brain called corpus callosum 0002079 Hypsarrhythmia [rarediseases.info.nih.gov]

    Almost 20% of all persons with the disorder have infantile spasms associated with hypsarrhythmia on EEG. Infantile spasms may either be the presenting seizure type or may follow other seizure types. [ncbi.nlm.nih.gov]

Treatment is limited; symptomatic treatment is the usual treatment available. The heart, eye, muscle tone, and swallowing problems may be reduced by specialists in those fields. [medicinenet.com]

Some individuals may have severe complications due to skeletal, heart, gastrointestinal, or renal abnormalities. 1p36 Deletion Syndrome Treatment Treatment for 1p36 Deletion Syndrome is symptomatic depending on the features of an individual. [evolvegene.com]

CLOSE Medical Disclaimer The medical information on this site is provided as an information resource only, and is not to be used or relied on for any diagnostic or treatment purposes. [diseaseinfosearch.org]

Treatment depends on the symptoms, and may include rehabilitation/educational programs, antiepileptic medication, and standard treatment for heart, kidney, eye, hearing or bone problems. [malacards.org]

The listed individuals also have different responses to the treatment. [syndromespedia.com]

What is the prognosis and life expectancy for 1p36 deletion syndrome? Part of the prognosis for individuals with 1p36 deletion syndrome really depends on how much of DNA is missing from the p36 region. [medicinenet.com]

Prognosis of 1p36 Deletion Syndrome A individual person’s prognosis with 1p36 deletion syndrome differs on how much DNA is deleted from the p36 section. A few researches now record p36 as p36.1 to p36.3. [syndromespedia.com]

1p36 Deletion Syndrome has a variable prognosis. [evolvegene.com]

Constant monitoring for lifelong health concerns such as seizures is imperative; however, the long-term prognosis for these patients is promising. [etd.ohiolink.edu]

Prognosis Because of the highly variable nature of SMS, it is impossible to generalize about prognosis for individual cases. [rarediseases.org]

[…] deletion but rather a spectrum of different deletion sizes with a common minimal region of deletion overlap Genotype/phenotype comparisons can help researchers to start to define a region in which to search for candidate genes for specific features Etiology [en.wikibooks.org]

Chapters on epidemiology, embryology, non-syndromic hearing loss, and syndromic forms of hearing loss have all been updated with particular attention to the vast amount of new information on molecular mechanisms, and chapters on clinical and molecular [books.google.com]

Feeding difficulties can be managed with specialized assistive devices or with a gastrostomy (feeding) tube. [2] Epidemiology [ edit ] 1p36 deletion syndrome is the most common terminal deletion syndrome in humans. [5] It occurs in between 1 in 5000 and [en.wikipedia.org]

Pathophysiology of the transient temporal lobe lesion in a patient with Menkes disease. Pediatr Int. 50: 825-7, 2008 Ito H, Mori K, Inoue N, Kagami S. A case of Kabuki syndrome presenting West syndrome. Brain Dev 2007; 29: 380-2. [tokudai-pediatrics.net]

[…] the 1p36 deletion syndrome is likely to be a contiguous gene deletion syndrome. 20 22 Clinical features DEVELOPMENT Developmental delay is almost invariable, although the small number of older children and adults with pure 1p36 monosomy reported has prevented [jmg.bmj.com]

Gamma-secretase inhibitor prevents Notch3 activation and reduces proliferation in human lung cancers. Cancer Res. 2007; 67(17):8051-7. Laureys G, Speleman F, Opdenakker G, Benoit Y, Leroy J. [google.ch]

Images