The 1p36 deletion syndrome is present in approximately 1 in 5,000 live births. It is the most common terminal deletion syndrome 2. There is a broad spectrum of variability in the clinical presentation of monosomy 1p36. [radiopaedia.org]

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

In regard to diagnostic approach for the present case, we performed exome-first approach postnatally following prenatal G-banding analysis. [hindawi.com]

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]

• Weight Gain

  Failure to thrive is defined as the failure to grow and gain weight at a rate that would be expected based upon age and gender. [rarediseases.org]

• 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]

• Hirsutism

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

  By comparison, proximal deletions beyond 1p36.23 (usually interstitial) show non-classical features including severe intellectual disability, hirsutism, abnormal ears, coarse facies, congenital heart disease, and variable cardiomyopathy [4, 5]. [link.springer.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]

• Short Fifth Finger

  5th finger Short 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 [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 17camptodactyly,11 17 and small hands and feet9 11 13 were noted in some patients. [jmg.bmj.com]

  Hockey-stick palm crease on her right hand, bilateral short fifth finger and one hyperpigmented macule on the back were also observed. [bmcpediatr.biomedcentral.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

  […] and late-closing anterior fontanel [2-4]. [enlivenarchive.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]

  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 curvature [en.wikipedia.org]

  anterior fontanelle (soft spot in the skull of newborns and young babies), epicanthal folds (extra skin over the inside corner of the eye), microcephaly (small head), and brachycephaly (broad head). [my46.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]

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]

See Slideshow What is the treatment for 1p36 deletion syndrome? Share Your Story Treatment is limited; symptomatic treatment is the usual treatment available. [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]

Treatment or Management of the Condition Learning disabilities A rehabilitation program that helps with motor development and communication sills. Seziures Children with seizures are controlled by antiepileptic drugs. [wiki.ggc.edu]

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]

However, given the implications for prognosis and higher rate of hypotonia and severe developmental delay, molecular prenatal diagnosis, specifically for deletion of 1p36, should be considered in the setting of a fetal akinesia. [hindawi.com]

[…] 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]

Introduction Fetal akinesia is a condition characterized by reduced or absent fetal movements independent of the etiologies [1–3]. [hindawi.com]

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 1 [en.wikipedia.org]

Differences in epidemiological and clinical characteristics between various types of Duane retraction syndrome in 331 patients. JAAPOS. 2008;12(6):576–80. Google Scholar 8. Yüksel D, Orban de Xivry JJ, Lefèvre P. [link.springer.com]

In a detailed review of all the genes located in the overlapped region of Neal’s patient and our patient (Fig. 2), we found that the HES3 gene could correlate with the pathophysiology of DRS, since this gene has been associated with the morphogenesis [link.springer.com]

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]