Overview
Partial deletion of the long arm of chromosome 13 syndrome (also known as 13q deletion syndrome or partial monosomy 13q) is a rare chromosomal disorder in which a portion of the long arm (q arm) of chromosome 13 is missing. The clinical presentation varies widely depending on the size and specific location of the deleted segment. This condition can affect multiple body systems, including the central nervous system, eyes, musculoskeletal system, and internal organs. Common features may include intellectual disability, developmental delay, growth retardation, microcephaly, and characteristic facial features such as a prominent nasal bridge, a short nose, and micrognathia. Eye abnormalities, including retinoblastoma (particularly when the deletion involves the 13q14 region encompassing the RB1 gene), coloboma, and microphthalmia, are well-recognized associations. Congenital heart defects, genitourinary anomalies, and limb malformations (notably thumb hypoplasia or aplasia) may also occur. The severity and spectrum of features depend heavily on which genes are lost within the deleted region. Deletions involving more proximal segments of 13q tend to produce different phenotypic profiles compared to more distal deletions. Some individuals with small deletions may have relatively mild manifestations, while larger deletions typically result in more significant multi-system involvement. Brain malformations, including holoprosencephaly, have been reported in some cases with specific deletion breakpoints. There is no cure for this condition, and management is supportive and symptom-based. Treatment may include early intervention programs, special education, physical and occupational therapy, surgical correction of congenital anomalies (such as heart defects or limb malformations), and ophthalmologic surveillance — particularly screening for retinoblastoma when the RB1 locus is involved. A multidisciplinary team approach involving geneticists, pediatricians, cardiologists, ophthalmologists, and developmental specialists is essential for optimal care.
Also known as:
Sporadic
Usually appears on its own, not inherited from a parent
Neonatal
Begins at or shortly after birth (first 4 weeks)
Treatments
No FDA-approved treatments are currently listed for Partial deletion of the long arm of chromosome 13 syndrome.
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Treatment Centers
8 centersBaylor College of Medicine Rare Disease Center ↗
Baylor College of Medicine
📍 Houston, TX
🏥 NORDStanford Medicine Rare Disease Center ↗
Stanford Medicine
📍 Stanford, CA
🔬 UDNNIH Clinical Center Undiagnosed Diseases Program ↗
National Institutes of Health
📍 Bethesda, MD
🔬 UDNUCLA UDN Clinical Site ↗
UCLA Health
📍 Los Angeles, CA
🔬 UDNBaylor College of Medicine UDN Clinical Site ↗
Baylor College of Medicine
📍 Houston, TX
🔬 UDNHarvard/MGH UDN Clinical Site ↗
Massachusetts General Hospital
📍 Boston, MA
🏥 NORDMayo Clinic Center for Individualized Medicine ↗
Mayo Clinic
📍 Rochester, MN
👤 Mayo Clinic Center for Individualized Medicine
🏥 NORDUCLA Rare Disease Day Program ↗
UCLA Health
📍 Los Angeles, CA
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Common questions about Partial deletion of the long arm of chromosome 13 syndrome
What is Partial deletion of the long arm of chromosome 13 syndrome?
Partial deletion of the long arm of chromosome 13 syndrome (also known as 13q deletion syndrome or partial monosomy 13q) is a rare chromosomal disorder in which a portion of the long arm (q arm) of chromosome 13 is missing. The clinical presentation varies widely depending on the size and specific location of the deleted segment. This condition can affect multiple body systems, including the central nervous system, eyes, musculoskeletal system, and internal organs. Common features may include intellectual disability, developmental delay, growth retardation, microcephaly, and characteristic fac
How is Partial deletion of the long arm of chromosome 13 syndrome inherited?
Partial deletion of the long arm of chromosome 13 syndrome follows a sporadic inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.
At what age does Partial deletion of the long arm of chromosome 13 syndrome typically begin?
Typical onset of Partial deletion of the long arm of chromosome 13 syndrome is neonatal. Age of onset can vary across affected individuals.