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Shashi-Pena syndrome

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Other Names:
ASXL2/Shashi-Pena Syndrome
Shashi-Pena syndrome is a rare neurologic disease characterized by delayed psychologic and motor development, variable intellectual disability, and poor muscle tone (hypotonia). Described features include tall stature, a large head (macrocephaly), deep palmar creases, and distinct facial features. These features include a port-wine birthmark on the forehead (glabellar nevus flammeus), widely spaced eyes (hypertelorism), arched eyebrows, prominent eyes, a broad nasal tip and minor ear abnormalities. Some patients may also have heart abnormalities (such as atrial septal defect), feeding difficulties, changes in bone mineral density, advanced bone age, aggressive and/or autistic behavior and/or seizures.[1][2]  MRI of the brain may show a loss of neuronal cells (cerebral atrophy). Blood exams may show episodes of low sugar (hypoglycemia), and in some cases, elevated liver enzymes (transaminases), high levels of insulin (hyperinsulinemia), and high fat levels (hyperlipidemia).[1] Shashi-Pena syndrome is caused by variations (mutations) in the ASXL2 gene, which is important for neurologic and bone development, heart function, and glucose and lipid metabolism.[3][4] Treatment depends on the symptoms and may include medication and behavioral therapy, as well as surgical procedures if needed.
Last updated: 3/23/2018

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

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Medical Terms Other Names
Learn More:
HPO ID
5%-29% of people have these symptoms
Accelerated skeletal maturation
Advanced bone age
Early bone maturation
[ more ] 		0005616
Hypoglycemia
Low blood sugar
0001943
Osteoporosis 0000939
Seizure 0001250
Percent of people who have these symptoms is not available through HPO
Atrial septal defect
An opening in the wall separating the top two chambers of the heart
Hole in heart wall separating two upper heart chambers
[ more ] 		0001631
Autosomal dominant inheritance 0000006
Broad nasal tip
Broad tip of nose
Broad, upturned nose
Increased breadth of nasal tip
Increased breadth of tip of nose
Increased width of nasal tip
Increased width of tip of nose
Nasal tip, broad
Nasal tip, wide
Wide tip of nose
[ more ] 		0000455
Deep palmar crease
Deep palm line
0006191
Delayed speech and language development
Deficiency of speech development
Delayed language development
Delayed speech
Delayed speech acquisition
Delayed speech development
Impaired speech and language development
Impaired speech development
Language delay
Language delayed
Language development deficit
Late-onset speech development
Poor language development
Speech and language delay
Speech and language difficulties
Speech delay
[ more ] 		0000750
Feeding difficulties in infancy 0008872
Generalized hypotonia
Decreased muscle tone
Low muscle tone
[ more ] 		0001290
Global developmental delay 0001263
Highly arched eyebrow
Arched eyebrows
Broad, arched eyebrows
High, rounded eyebrows
High-arched eyebrows
Thick, flared eyebrows
[ more ] 		0002553
Hypertelorism
Wide-set eyes
Widely spaced eyes
[ more ] 		0000316
Infantile onset
Onset in first year of life
Onset in infancy
[ more ] 		0003593
Intellectual disability
Mental deficiency
Mental retardation
Mental retardation, nonspecific
Mental-retardation
[ more ] 		0001249
Kyphosis
Hunched back
Round back
[ more ] 		0002808
Long face
Elongation of face
Increased height of face
Increased length of face
Vertical elongation of face
Vertical enlargement of face
Vertical overgrowth of face
[ more ] 		0000276
Low-set ears
Low set ears
Lowset ears
[ more ] 		0000369
Macrocephaly
Increased size of skull
Large head
Large head circumference
[ more ] 		0000256
Nevus
Mole
0003764
Posteriorly rotated ears
Ears rotated toward back of head
0000358
Proptosis
Bulging eye
Eyeballs bulging out
Prominent eyes
Prominent globes
Protruding eyes
[ more ] 		0000520
Ptosis
Drooping upper eyelid
0000508
Retrognathia
Receding chin
Receding lower jaw
Weak chin
Weak jaw
[ more ] 		0000278
Scoliosis 0002650
Ventriculomegaly 0002119
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Last updated: 7/1/2020

These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

In-Depth Information

  • Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine. 

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  1. Shashi V, Pena LDM, Kim K, et al. De Novo Truncating Variants in ASXL2 Are Associated with a Unique and Recognizable Clinical Phenotype. American Journal of Human Genetics. 2016. 2016; 99(4):991-999. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5065681/.
  2. Shashi-Pena syndrome. OMIM. 2018; https://www.omim.org/entry/617190.
  3. Izawa T, Rohatgi N, Fukunaga T, et al. ASXL2 regulates glucose, lipid and skeletal homeostasis. Cell reports. 2015; 11(10):1625-1637. https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4472564/.
  4. ASXL2. Genetics Home Reference. 2018; https://ghr.nlm.nih.gov/gene/ASXL2.