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Monosomy 1p36 Syndrome

1p36 Deletion Syndrome


Presentation

  • Hypogonadism, present in both males and females, manifests as genital hypoplasia, incomplete pubertal development, and, in most, infertility.[ncbi.nlm.nih.gov]
  • Developmental delay/intellectual disability of variable degree are present in all, and hypotonia in 95%. Seizures occur in 44%-58% of affected individuals.[ncbi.nlm.nih.gov]
  • The strategy allowed the identification and delineation of rearrangements in nine subjects with a wide spectrum of clinical presentations.[ncbi.nlm.nih.gov]
  • Atypical Presentation of Juvenile Rheumatoid Arthritis in a Patient with Monosomy 1p36 David C. Tapscott, Anjali Patwardhan.[scopemed.org]
  • The Autisms, written by Mary Coleman and Christopher Gillberg, demonstrates that autism, like mental retardation, is a clinical presentation of numerous different diseases, many with genomic underpinnings.[books.google.com]
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]
Aspiration
  • Feeding difficulties may be caused by hypotonia and/or oral facial clefts with related difficulty in sucking, poorly coordinated swallow with consequent aspiration, and/or gastroesophageal reflux and vomiting.[ncbi.nlm.nih.gov]
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]
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]
Broad Nasal Bridge
  • Clinical findings were generalised obesity with a body mass index 95th centile, acanthosis nigricans of the neck, arms with self inflicted lesions, deep-set eyes, straight eyebrows, broad nasal bridge and pointed chin.[ncbi.nlm.nih.gov]
  • nasal bridge Broad nasal root Broadened nasal bridge Increased breadth of bridge of nose Increased breadth of nasal bridge Increased width of bridge of nose Increased width of nasal bridge Nasal bridge broad Wide bridge of nose Widened nasal bridge [[rarediseases.info.nih.gov]
  • The facial appearance is characterized by a broad square-shaped face, brachycephaly, prominent forehead, synophrys, mildly upslanting palpebral fissures, deep-set eyes, broad nasal bridge, midfacial retrusion (formerly known as midfacial hypoplasia),[ncbi.nlm.nih.gov]
Poor or Absent Speech
  • A characteristic facial appearance, hypotonia, psychomotor retardation and poor or absent speech are suggestive of chromosome 1p36 deletion syndrome, and the diagnosis is confirmed by detecting a deletion of the most distal band of the short arm of chromosome[nature.com]
  • Diagnosis Clinical Diagnosis The diagnosis of 1p36 deletion syndrome is suggested by the characteristic facial appearance, hypotonia, psychomotor retardation, and poor or absent speech and is confirmed by detection of a deletion of the most distal band[ncbi.nlm.nih.gov]
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]

Workup

  • 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]

Treatment

  • 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]
  • [ edit ] There is no cure for 1p36 deletion syndrome, and treatment is focused on relieving symptoms of the disease.[en.wikipedia.org]

Prognosis

  • 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]

Etiology

  • […] 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]

Epidemiology

  • This new edition contains several chapters on the associated problems of autism, such as intellectual disability, epilepsy, tics, eating disorders and sleep problems, as well as a chapter on epidemiology that documents the historical increase in autism[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]
Sex distribution
Age distribution

Pathophysiology

  • 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]

Prevention

  • […] 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]

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