Presentation
The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment. [orpha.net]
These patients presented with evidence of prenatal overgrowth and developed postnatal overgrowth. [hindawi.com]
These patients presented tonic-atonic, tonic–clonic, and absence seizures. [elsevier.es]
Chromosomal studies are necessary to determine whether a balanced translocation is present in one of the parents. Other treatment for the disorder is symptomatic and supportive. [rarediseases.org]
Entire Body System
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Physician
Physicians may also regularly monitor affected individuals for such infections to ensure early detection and appropriate, prompt treatment. [rarediseases.org]
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Feeding Difficulties
In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]
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Surgical Procedure
The surgical procedures performed will depend upon the severity and location of the anatomical abnormalities and their associated symptoms. [rarediseases.org]
Respiratoric
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Aspiration
In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]
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Pneumonia
In some cases, swallowing and feeding difficulties may cause food to be inhaled (aspirated) into the lungs, which may result in severe lung infections (aspiration pneumonia). [rarediseases.org]
Musculoskeletal
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Dolichocephaly
In some cases, the fibrous joints between certain bones in the skull (sagittal sutures) close prematurely (craniosynostosis), causing the head to appear abnormally long and narrow (dolichocephaly). [rarediseases.org]
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Thin Fingers
Affected individuals may have unusually long, thin fingers and/or toes (arachnodactyly), permanently flexed fingers (camptodactyly), and/or excessive extension (hyperextension) of the thumbs. [rarediseases.org]
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Flexion Contracture
In some cases, abnormalities involving the joints, tendons, muscles, and bones (e.g., flexion contractures, malformations of the fingers and/or toes, scoliosis) may be treated with orthopedic techniques potentially in combination with surgery. [rarediseases.org]
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Torticollis
[…] facial asymmetry 58 31 frequent (33%) Frequent (79-30%) HP:0000324 21 blepharophimosis 58 31 frequent (33%) Frequent (79-30%) HP:0000581 22 abnormality of female external genitalia 58 31 frequent (33%) Frequent (79-30%) HP:0000055 23 congenital muscular torticollis [malacards.org]
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Joint Stiffness
stiffness 58 31 hallmark (90%) Very frequent (99-80%) HP:0001387 5 cryptorchidism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000028 6 micrognathia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000347 7 downslanted palpebral fissures 58 31 hallmark [malacards.org]
Face, Head & Neck
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Short Neck
Symptoms * Prenatal growth retardation * Postnatal growth retardation * Mental retardation * Head malformations * Facial malformations * Short neck * Finger malformations * Toe malformations * Scoliosis * Skeletal malformations * Genital abnormalities [checkorphan.org]
neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470 15 seizures 58 31 frequent (33%) Frequent (79-30%) HP:0001250 16 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508 17 muscular hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001252 18 [malacards.org]
The child had short neck, deep sternal notch and scoliosis. The scrotal sac was underdeveloped with bilateral hypoplastic undescended testis. Neurologically the child was spastic with scissoring of legs and hypertonia. [indianpediatrics.net]
Additional abnormalities typically include an unusually short neck; malformations of the fingers and/or toes; abnormal sideways curvature of the spine (scoliosis) and/or other skeletal malformations; genital abnormalities, particularly in affected males [rarediseases.org]
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Broad Nasal Bridge
nasal bridge Long chin Prominent nose and chin Prominent nose Broad nasal bridge Ptosis Blepharoptosis Hypotonia Large chin Broad nasal bridge Seizures Prominent nasal bridge Multiple joint contractures M: male; F: female; : feature present; : feature [hindawi.com]
B, Individual IV:8, showing dysmorphic ears and broad nasal bridge. C, Patient IV:10, with dysmorphic ears, broad nasal bridge, hypertelorism, and long nasolabial philtrum. [jamanetwork.com]
nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]
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Bulbous Nose
On examination, the child had dysmorphic features in the form of hypertelorism, down slanting eyes, low-set large ears, prominent metopic suture, bulbous nose, mandibular hypoplasia and high arched palate (Fig. 1). [indianpediatrics.net]
nose with a broad nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]
Psychiatrical
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Impulsivity
In addition, in some cases, electroencephalography (EEG), which records the brain's electrical impulses, may reveal brain wave patterns that are characteristic of certain types of seizure activity. [rarediseases.org]
Neurologic
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Profound Mental Retardation
In addition, most affected infants and children have severe to profound mental retardation. However, in rare cases (i.e., trisomy 15q25-qter), only mild mental retardation may be present. [rarediseases.org]
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Stroke
800) 242-8721 Email: [email protected] Website: Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Phone: (301) 251-4925 Toll-free: (888) 205-2311 Website: NIH/National Institute of Neurological Disorders and Stroke [rarediseases.org]
Treatment
Standard Therapies Treatment The treatment of Chromosome 15, Distal Trisomy 15q is directed toward the specific symptoms that are apparent in each individual. Treatment may require the coordinated efforts of a team of specialists. [rarediseases.org]
Etiology
IGF1R gene may also be involved in the etiology of neurological symptoms of these patients. [ec.bioscientifica.com]
Hosak L, Silhan P, Hosakova J: Genomic copy number variations: a breakthrough in our knowledge on schizophrenia etiology? Neuro Endocrinol Lett 2012, 33: 183–190. 19. [molecularcytogenetics.biomedcentral.com]
Epidemiology
Contents 1 Signs and symptoms 2 Treatment 3 Epidemiology 4 See also 5 References 6 External links Signs and symptoms Classification D ICD-10: Q92.3 MeSH: C538036 External resources Orphanet: 1707 This genetic disorder article is a stub. [en.wikipedia.org]
Prevention
The importance of extended family screening for the same balanced translocation on the mother's side; and its importance for the prevention of recurrences in the extended family has been explained. [pediatricneurosciences.com]
In addition, physicians may recommend preventive measures for affected infants and children who may be prone to repeated respiratory infections. [rarediseases.org]