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Widened subarachnoid space

MedGen UID:
375826
Concept ID:
C1846151
Finding
Synonyms: Enlarged subarachnoid spaces; Widened subarachnoid spaces
 
HPO: HP:0012704

Definition

An increase in size of the anatomic space between the arachnoid membrane and pia mater. [from HPO]

Conditions with this feature

Goldberg-Shprintzen syndrome
MedGen UID:
332131
Concept ID:
C1836123
Disease or Syndrome
Goldberg-Shprintzen syndrome (GOSHS) is an autosomal recessive multiple congenital anomaly syndrome characterized by impaired intellectual development, microcephaly, and dysmorphic facial features. Most patients also have Hirschsprung disease and/or gyral abnormalities of the brain, consistent with defects in migration of neural crest cells and neurons. Other features, such as megalocornea or urogenital anomalies, may also be present. Goldberg-Shprintzen syndrome has some resemblance to Mowat-Wilson syndrome (MOWS; 235730) but is genetically distinct (summary by Drevillon et al., 2013).
Spondyloepimetaphyseal dysplasia, Bieganski type
MedGen UID:
335350
Concept ID:
C1846148
Disease or Syndrome
X-linked spondyloepimetaphyseal dysplasia with hypomyelinating leukodystrophy (SEMDHL) is an X-linked recessive developmental disorder characterized by slowly progressive skeletal and neurologic abnormalities, including short stature, large and deformed joints, significant motor impairment, visual defects, and sometimes cognitive deficits. Affected individuals typically have normal early development in the first year or so of life, followed by development regression and the development of symptoms. Brain imaging shows white matter abnormalities consistent with hypomyelinating leukodystrophy (summary by Miyake et al., 2017).
Chromosome Xp11.23-p11.22 duplication syndrome
MedGen UID:
440690
Concept ID:
C2749022
Disease or Syndrome
Familial and <i>de novo</i> recurrent Xp11.22-p11.23 microduplication has been recently identified in males and females.
Multiple congenital anomalies-hypotonia-seizures syndrome 2
MedGen UID:
477139
Concept ID:
C3275508
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome-2 (MCAHS2) is an X-linked recessive neurodevelopmental disorder characterized by dysmorphic features, neonatal hypotonia, early-onset myoclonic seizures, and variable congenital anomalies involving the central nervous, cardiac, and urinary systems. Some affected individuals die in infancy (summary by Johnston et al., 2012). The phenotype shows clinical variability with regard to severity and extraneurologic features. However, most patients present in infancy with early-onset epileptic encephalopathy associated with developmental arrest and subsequent severe neurologic disability; these features are consistent with a form of developmental and epileptic encephalopathy (DEE) (summary by Belet et al., 2014, Kato et al., 2014). The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis. For a discussion of genetic heterogeneity of MCAHS, see MCAHS1 (614080). For a discussion of nomenclature and genetic heterogeneity of DEE, see 308350. For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Hyperphosphatasia with intellectual disability syndrome 5
MedGen UID:
863395
Concept ID:
C4014958
Disease or Syndrome
GPIBD11 is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, and variable seizures. Some patients may have dysmorphic features or increased serum alkaline phosphatase. The disorder is caused by a defect in glycosylphosphatidylinositol (GPI) biosynthesis (summary by Hogrebe et al., 2016). For a discussion of genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Huppke-Brendel syndrome
MedGen UID:
1659966
Concept ID:
C4751114
Disease or Syndrome
Huppke-Brendel syndrome (HBS) is characterized by bilateral congenital cataracts, sensorineural hearing loss, and severe developmental delay. To date, six individuals with HBS have been reported in the literature. All presented in infancy with axial hypotonia; motor delay was apparent in the first few months of life with lack of head control and paucity of limb movement. Seizures have been reported infrequently. In all individuals described to date serum copper and ceruloplasmin levels were very low or undetectable. Brain MRI examination showed hypomyelination, cerebellar hypoplasia mainly affecting the vermis, and wide subarachnoid spaces. None of the individuals reported to date were able to sit or walk independently. All affected individuals died between age ten months and six years.
Global developmental delay with or without impaired intellectual development
MedGen UID:
1675328
Concept ID:
C5193032
Disease or Syndrome
Mitochondrial complex IV deficiency, nuclear type 22
MedGen UID:
1786100
Concept ID:
C5543491
Disease or Syndrome
Mitochondrial complex IV deficiency nuclear type 22 (MC4DN22) is an autosomal recessive metabolic disorder characterized by neonatal hypertrophic cardiomyopathy, encephalopathy, and severe lactic acidosis with fatal outcome (Wintjes et al., 2021). For a discussion of genetic heterogeneity of mitochondrial complex IV (cytochrome c oxidase) deficiency, see 220110.
Neurodegeneration, childhood-onset, with progressive microcephaly
MedGen UID:
1801540
Concept ID:
C5676972
Disease or Syndrome
Childhood-onset neurodegeneration with progressive microcephaly (CONPM) is an autosomal recessive neurodevelopmental disorder characterized by global developmental delay apparent from infancy. The phenotype is highly variable: the most severely affected individuals have severe and progressive microcephaly, early-onset seizures, lack of visual tracking, and almost no developmental milestones, resulting in early death. Less severely affected individuals have a small head circumference and severely impaired intellectual development with poor speech and motor delay. Additional features may include poor overall growth, axial hypotonia, limb hypertonia with spasticity, undescended testes, and cerebral atrophy with neuronal loss (Lam et al., 2019 and Vanoevelen et al., 2022).
Leukodystrophy, hypomyelinating, 24
MedGen UID:
1805365
Concept ID:
C5676974
Disease or Syndrome
Hypomyelinating leukodystrophy-24 (HLD24) is an autosomal dominant disorder characterized by global developmental delay and neurologic deterioration (Segawa et al., 2021). For a general phenotypic description and a discussion of genetic heterogeneity of HLD, see 312080.
Developmental and epileptic encephalopathy, 31B
MedGen UID:
1841095
Concept ID:
C5830459
Disease or Syndrome
Developmental and epileptic encephalopathy-31B (DEE31B) is an autosomal recessive neurologic disorder with early-onset epilepsy, generalized muscular hypotonia, visual impairment, and severe neurodevelopmental delay (Yigit et al., 2022).
Neurodevelopmental disorder with hypotonia and seizures
MedGen UID:
1857806
Concept ID:
C5935609
Disease or Syndrome
Neurodevelopmental disorder with hypotonia and seizures (NEDHS) is an autosomal recessive disorder characterized by hypotonia apparent from early infancy, global developmental delay with severely impaired intellectual development, and early-onset seizures. Heterozygous mutation carriers show a milder neurocognitive disorder with learning disabilities, similar to chromosome 15q13.3 deletion syndrome (Garret et al., 2020; Suzuki et al., 2021).

Recent clinical studies

Etiology

Lui K, Boag G, Daneman A, Costello S, Kirpalani H, Whyte H
Dev Med Child Neurol 1990 Oct;32(10):882-7. doi: 10.1111/j.1469-8749.1990.tb08100.x. PMID: 2257986
Pettit RE, Kilroy AW, Allen JH
Arch Neurol 1980 Aug;37(8):518-21. doi: 10.1001/archneur.1980.00500570066011. PMID: 7417044

Diagnosis

Yu K, Yi M, Cui R, Gong T, Dong C, Gao X, Zhao J, Li M
J Child Neurol 2021 May;36(6):447-452. Epub 2020 Dec 17 doi: 10.1177/0883073820977998. PMID: 33331188
Tongsong T, Puntachai P, Tongprasert F, Srisupundit K, Luewan S, Traisrisilp K
J Ultrasound Med 2015 May;34(5):917-24. doi: 10.7863/ultra.34.5.917. PMID: 25911725
Lui K, Boag G, Daneman A, Costello S, Kirpalani H, Whyte H
Dev Med Child Neurol 1990 Oct;32(10):882-7. doi: 10.1111/j.1469-8749.1990.tb08100.x. PMID: 2257986

Prognosis

He J, Zhou W, Shi J, Zhang B, Wang H
Epileptic Disord 2020 Feb 1;22(1):120-124. doi: 10.1684/epd.2020.1131. PMID: 32051108
Lui K, Boag G, Daneman A, Costello S, Kirpalani H, Whyte H
Dev Med Child Neurol 1990 Oct;32(10):882-7. doi: 10.1111/j.1469-8749.1990.tb08100.x. PMID: 2257986

Clinical prediction guides

Yu K, Yi M, Cui R, Gong T, Dong C, Gao X, Zhao J, Li M
J Child Neurol 2021 May;36(6):447-452. Epub 2020 Dec 17 doi: 10.1177/0883073820977998. PMID: 33331188
Lui K, Boag G, Daneman A, Costello S, Kirpalani H, Whyte H
Dev Med Child Neurol 1990 Oct;32(10):882-7. doi: 10.1111/j.1469-8749.1990.tb08100.x. PMID: 2257986
Pettit RE, Kilroy AW, Allen JH
Arch Neurol 1980 Aug;37(8):518-21. doi: 10.1001/archneur.1980.00500570066011. PMID: 7417044
Ohno K, Enomoto T, Imamoto J, Takeshita K, Arima M
J Comput Assist Tomogr 1979 Feb;3(1):92-5. doi: 10.1097/00004728-197902000-00015. PMID: 422798

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