Shashi-Pena Syndrome (SHAPNS)

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OMIM 56 617190 MeSH 43 D065886

MedGen 41 C4310672 CN239057 SNOMED-CT via HPO 68 111266001 11934000 123982003 128613002 162294008 18265008 194021007 21119008 22006008 224958001 228156007 229721007 237630007 246545002 247578003 249327002 253251006 253366007 263681008 271327008 29164008 302866003 313307000 400096001 405752007 414564002 51697005 62415009 64217002 64859006 70142008 84757009 91138005 91175000 95515009 more

NIH Rare Diseases : ⁵² 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 . 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). 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. Treatment depends on the symptoms and may include medication and behavioral therapy, as well as surgical procedures if needed.

MalaCards based summary : Shashi-Pena Syndrome, is also known as shapns. An important gene associated with Shashi-Pena Syndrome is ASXL2 (ASXL Transcriptional Regulator 2). Affiliated tissues include bone, eye and brain, and related phenotypes are hypoglycemia and osteoporosis

OMIM : ⁵⁶ Shashi-Pena syndrome is a neurodevelopmental syndrome characterized by delayed psychomotor development, variable intellectual disability, hypotonia, facial dysmorphism, and some unusual features, including enlarged head circumference, glabellar nevus flammeus, and deep palmar creases. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures (summary by Shashi et al., 2016). (617190)

UniProtKB/Swiss-Prot : ⁷³ Shashi-Pena syndrome: An autosomal dominant syndrome characterized by delayed psychomotor development, intellectual disability of variable severity, macrocephaly, prominent eyes, arched eyebrows, hypertelorism, a glabellar nevus flammeus, neonatal feeding difficulties, and hypotonia. Some patients may also have atrial septal defect, episodic hypoglycemia, changes in bone mineral density, and/or seizures.

Clinical features from OMIM:

617190

Search NIH Clinical Center for Shashi-Pena Syndrome

Search GEO for disease gene expression data for Shashi-Pena Syndrome.