trisomy 15q25-qter), affected individuals may exhibit abnormally tall stature. (For more information on trisomy 15q25-qter, see the “Causes” section below.) [rarediseases.org]

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]

A partial trisomy 15q due to 15;17 translocation detected by conventional cytogenetic and FISH techniques. Genet Couns. 2000;11:25-32. Zollino M, et al. [rarediseases.org]

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]

Physicians may also regularly monitor affected individuals for such infections to ensure early detection and appropriate, prompt treatment. [rarediseases.org]

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]

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]

These include: facial asymmetry, down-slanting palpebral fissures, ptosis, prominent nose, long philtrum, down-turned mouth, midline crease in the lower lip, puffy cheeks, and micrognathia. [ncbi.nlm.nih.gov]

Additional craniofacial malformations typically associated with the disorder may include downwardly slanting, short, and/or narrow eyelid folds (palpebral fissures); drooping of the upper eyelids (ptosis); an abnormally large, prominent, and/or rounded [rarediseases.org]

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]

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]

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]

Clinical similarities between unrelated individuals with similar duplicated 15q material, but differing second chromosomes, suggest that the phenotype is due to the extra distal 15q chromosomal material. [ncbi.nlm.nih.gov]

Ultrasound studies may reveal characteristic findings that suggest a chromosomal disorder or other developmental abnormalities in the fetus. During amniocentesis, a sample of fluid that surrounds the developing fetus is removed and studied. [rarediseases.org]

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]

nose with a broad nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]

nasal bridge; and/or an unusually small, triangular mouth. [rarediseases.org]