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]

• 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]

  At 8 months old he had occasional feeding difficulties and moderate growth retardation. Short term peripheral blood lymphocyte cultures were initiated and harvested by standard protocols. [jmg.bmj.com]

• Surgical Procedure

  The surgical procedures performed will depend upon the severity and location of the anatomical abnormalities and their associated symptoms. [rarediseases.org]

• 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]

• 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]

• Blepharoptosis

  Strabismus Long prominent nose Dolichocephalic Microcephaly Prominent nose *Died soon after birth High arched palate Ptosis Strabismus Long face Prominent chin Broad nasal bridge Long chin Prominent nose and chin Prominent nose Broad nasal bridge Ptosis Blepharoptosis [hindawi.com]

• 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]

• 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]

• 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]

• 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]

• 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]

• 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]

  neck, downward slanting, narrow, palpebral fissures, ptosis, prominent nose with a broad nasal bridge, an abnormal philtrum, downturned mouth, high arched palate, midline crease in the lower lip, micrognathia, and microcephaly. [jmg.bmj.com]

  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]

• 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]

• 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]

• 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]

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]

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]

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]

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]

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]