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Absent septum pellucidum

MedGen UID:
96561
Concept ID:
C0431371
Congenital Abnormality
Synonym: Congenital absence of septum pellucidum
SNOMED CT: Absence of septum pellucidum (253143001)
 
HPO: HP:0001331
Monarch Initiative: MONDO:0022349

Definition

Absence of the septum pellucidum (meaning translucent wall in Latin - SP), also known as the ventricle of Sylvius. The septum pellucidum is a thin, triangular double membrane separating the frontal horns of the right and left lateral ventricles of the brain. It extends between the anterior portion of the corpus callosum, and the body of the fornix and its width varies from 1.5 to 3.0 mm. [from HPO]

Conditions with this feature

Acrocephalosyndactyly type I
MedGen UID:
7858
Concept ID:
C0001193
Congenital Abnormality
Apert syndrome is characterized by the presence of multisuture craniosynostosis, midface retrusion, and syndactyly of the hands with fusion of the second through fourth nails. Almost all affected individuals have coronal craniosynostosis, and a majority also have involvement of the sagittal and lambdoid sutures. The midface in Apert syndrome is underdeveloped as well as retruded; a subset of affected individuals have cleft palate. The hand in Apert syndrome always includes fusion of the middle three digits; the thumb and fifth finger are sometimes also involved. Feeding issues, dental abnormalities, hearing loss, hyperhidrosis, and progressive synostosis of multiple bones (skull, hands, feet, carpus, tarsus, and cervical vertebrae) are also common. Multilevel airway obstruction may be present and can be due to narrowing of the nasal passages, tongue-based airway obstruction, and/or tracheal anomalies. Nonprogressive ventriculomegaly is present in a majority of individuals, with a small subset having true hydrocephalus. Most individuals with Apert syndrome have normal intelligence or mild intellectual disability; moderate-to-severe intellectual disability has been reported in some individuals. A minority of affected individuals have structural cardiac abnormalities, true gastrointestinal malformations, and anomalies of the genitourinary tract.
Weaver syndrome
MedGen UID:
120511
Concept ID:
C0265210
Disease or Syndrome
EZH2-related overgrowth includes EZH2-related Weaver syndrome at one end of the spectrum and tall stature at the other. Although most individuals diagnosed with a heterozygous EZH2 pathogenic variant have been identified because of a clinical suspicion of Weaver syndrome, a minority have been identified through molecular genetic testing of family members of probands or individuals with overgrowth who did not have a clinical diagnosis of Weaver syndrome. Thus, the extent of the phenotypic spectrum associated with a heterozygous EZH2 pathogenic variant is not yet known. Weaver syndrome is characterized by tall stature, variable intellect (ranging from normal intellect to severe intellectual disability), characteristic facial appearance, and a range of associated clinical features including advanced bone age, poor coordination, soft doughy skin, camptodactyly of the fingers and/or toes, umbilical hernia, abnormal tone, and hoarse low cry in infancy. Brain MRI has identified abnormalities in a few individuals with EZH2-related overgrowth. Neuroblastoma occurs at a slightly increased frequency in individuals with a heterozygous EZH2 pathogenic variant but data are insufficient to determine absolute risk. There is currently no evidence that additional malignancies (including hematologic malignancies) occur with increased frequency.
Marshall-Smith syndrome
MedGen UID:
75551
Concept ID:
C0265211
Disease or Syndrome
The Marshall-Smith syndrome (MRSHSS) is a malformation syndrome characterized by accelerated skeletal maturation, relative failure to thrive, respiratory difficulties, mental retardation, and unusual facies, including prominent forehead, shallow orbits, blue sclerae, depressed nasal bridge, and micrognathia (Adam et al., 2005).
X-linked hydrocephalus syndrome
MedGen UID:
75552
Concept ID:
C0265216
Disease or Syndrome
L1 syndrome involves a phenotypic spectrum ranging from severe to mild and includes three clinical phenotypes: X-linked hydrocephalus with stenosis of the aqueduct of Sylvius (HSAS). MASA (mental retardation [intellectual disability], aphasia [delayed speech], spastic paraplegia [shuffling gait], adducted thumbs) syndrome including X-linked complicated hereditary spastic paraplegia type 1. X-linked complicated corpus callosum agenesis. Males with HSAS are born with severe hydrocephalus, adducted thumbs, and spasticity; intellectual disability is severe. In less severely affected males, hydrocephalus may be subclinically present and documented only because of developmental delay; intellectual disability ranges from mild (IQ: 50-70) to moderate (IQ: 30-50). It is important to note that all phenotypes can be observed in affected individuals within the same family.
Septo-optic dysplasia sequence
MedGen UID:
90926
Concept ID:
C0338503
Disease or Syndrome
Septooptic dysplasia is a clinically heterogeneous disorder loosely defined by any combination of optic nerve hypoplasia, pituitary gland hypoplasia, and midline abnormalities of the brain, including absence of the corpus callosum and septum pellucidum (Dattani et al., 1998). The diagnosis of this rare congenital anomaly is made when 2 or more features of the classic triad are present. Approximately 30% of patients have complete manifestations, 62% display hypopituitarism, and 60% have an absent septum pellucidum. The disorder is equally prevalent in males and females and is more common in infants born to younger mothers, with a reported incidence of 1 in 10,000 live births (summary by Webb and Dattani, 2010). Also see 516020.0012 for a form of septooptic dysplasia associated with cardiomyopathy and exercise intolerance.
Linear skin defects with multiple congenital anomalies 1
MedGen UID:
163210
Concept ID:
C0796070
Disease or Syndrome
Microphthalmia with linear skin defects (MLS) syndrome is characterized by unilateral or bilateral microphthalmia and/or anophthalmia and linear skin defects, usually involving the face and neck, which are present at birth and heal with age, leaving minimal residual scarring. Other findings can include a wide variety of other ocular abnormalities (e.g., corneal anomalies, orbital cysts, cataracts), central nervous system involvement (e.g., structural anomalies, developmental delay, infantile seizures), cardiac concerns (e.g., hypertrophic or oncocytic cardiomyopathy, atrial or ventricular septal defects, arrhythmias), short stature, diaphragmatic hernia, nail dystrophy, hearing impairment, and genitourinary malformations. Inter- and intrafamilial variability is described.
Fetal akinesia deformation sequence 1
MedGen UID:
220903
Concept ID:
C1276035
Disease or Syndrome
Decreased fetal activity associated with multiple joint contractures, facial anomalies and pulmonary hypoplasia. Ultrasound examination may reveal polyhydramnios, ankylosis, scalp edema, and decreased chest movements (reflecting pulmonary hypoplasia).
Amelia cleft lip palate hydrocephalus iris coloboma
MedGen UID:
321957
Concept ID:
C1832434
Disease or Syndrome
Brachial amelia, cleft lip, and holoprosencephaly (ACLH) is a severe multiple congenital anomaly disorder characterized by brachial amelia, cleft lip, and forebrain defects consistent with holoprosencephaly. Although the disorder is rarely reported, the features are consistent enough to constitute a distinct entity (summary by Kariminejad et al., 2009).
Fanconi anemia complementation group I
MedGen UID:
323016
Concept ID:
C1836861
Disease or Syndrome
Fanconi anemia (FA) is characterized by physical abnormalities, bone marrow failure, and increased risk for malignancy. Physical abnormalities, present in approximately 75% of affected individuals, include one or more of the following: short stature, abnormal skin pigmentation, skeletal malformations of the upper and/or lower limbs, microcephaly, and ophthalmic and genitourinary tract anomalies. Progressive bone marrow failure with pancytopenia typically presents in the first decade, often initially with thrombocytopenia or leukopenia. The incidence of acute myeloid leukemia is 13% by age 50 years. Solid tumors – particularly of the head and neck, skin, and genitourinary tract – are more common in individuals with FA.
Hydrolethalus syndrome 1
MedGen UID:
343455
Concept ID:
C1856016
Disease or Syndrome
Hydrolethalus-1 (HLS1) is an autosomal recessive lethal malformation syndrome characterized by hydrocephaly with absent upper midline structures of the brain, micrognathia, and polydactyly. Various other features such as cleft lip or palate, club feet, anomalies of the ears, eyes, and nose, keyhole-shaped defect in the occipital bone, abnormal genitalia, and congenital heart and respiratory organ defects have also been observed in affected individuals. Affected individuals are stillborn or die shortly after birth (summary by Mee et al., 2005). Genetic Heterogeneity of Hydrolethalus Syndrome See also HLS2 (614120), caused by mutation in the KIF7 gene (611254) on chromosome 15q26.
Craniotelencephalic dysplasia
MedGen UID:
347462
Concept ID:
C1857471
Disease or Syndrome
Characterised by frontal encephalocoele, craniosynostosis, and developmental delay.
4p partial monosomy syndrome
MedGen UID:
408255
Concept ID:
C1956097
Disease or Syndrome
Wolf-Hirschhorn syndrome is a congenital malformation syndrome characterized by pre- and postnatal growth deficiency, developmental disability of variable degree, characteristic craniofacial features ('Greek warrior helmet' appearance of the nose, high forehead, prominent glabella, hypertelorism, high-arched eyebrows, protruding eyes, epicanthal folds, short philtrum, distinct mouth with downturned corners, and micrognathia), and a seizure disorder (Battaglia et al., 2008).
Endocrine-cerebro-osteodysplasia syndrome
MedGen UID:
390740
Concept ID:
C2675227
Disease or Syndrome
Endocrine-cerebro-osteodysplasia (ECO) syndrome is characterized by various anomalies of the endocrine, cerebral, and skeletal systems resulting in neonatal mortality.
Chromosome 13q14 deletion syndrome
MedGen UID:
462652
Concept ID:
C3151302
Disease or Syndrome
The chromosome 13q14 deletion syndrome is characterized by retinoblastoma (180200), variable degrees of mental impairment, and characteristic facial features, including high forehead, prominent philtrum, and anteverted earlobes (summary by Caselli et al., 2007).
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).
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A13
MedGen UID:
815372
Concept ID:
C3809042
Disease or Syndrome
Congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies (type A) is a autosomal recessive disorder associated with severe neurologic defects and resulting in early infantile death. The phenotype includes the alternative clinical designations Walker-Warburg syndrome (WWS) and muscle-eye-brain disease (MEB). The disorder represents the most severe end of a phenotypic spectrum of similar disorders resulting from defective glycosylation of alpha-dystroglycan (DAG1; 128239), collectively known as dystroglycanopathies (summary by Buysse et al., 2013). For a general phenotypic description and a discussion of genetic heterogeneity of muscular dystrophy-dystroglycanopathy type A, see MDDGA1 (236670).
Knobloch syndrome 1
MedGen UID:
1642123
Concept ID:
C4551775
Disease or Syndrome
Knobloch syndrome-1 (KNO1) is an autosomal recessive developmental disorder primarily characterized by typical eye abnormalities, including high myopia, cataracts, dislocated lens, vitreoretinal degeneration, and retinal detachment, with occipital skull defects, which can range from occipital encephalocele to occult cutis aplasia (summary by Aldahmesh et al., 2011). Genetic Heterogeneity of Knobloch Syndrome KNO2 (618458) is caused by mutation in the PAK2 gene (605022) on chromosome 3q29.
Neurodevelopmental disorder with microcephaly and structural brain anomalies
MedGen UID:
1677276
Concept ID:
C5193123
Disease or Syndrome
Holoprosencephaly 12 with or without pancreatic agenesis
MedGen UID:
1684550
Concept ID:
C5193131
Disease or Syndrome
Holoprosencephaly-12 with or without pancreatic agenesis (HPE12) is a developmental disorder characterized by abnormal separation of the embryonic forebrain (HPE) resulting in dysmorphic facial features and often, but not always, impaired neurologic development. Most patients with this form of HPE also have congenital absence of the pancreas, resulting in early-onset type 1 diabetes mellitus and requiring pancreatic enzyme replacement. Other features may include hearing loss and absence of the gallbladder (summary by De Franco et al., 2019 and Kruszka et al., 2019). For a phenotypic description and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).
Genitourinary and/or brain malformation syndrome
MedGen UID:
1720440
Concept ID:
C5394158
Disease or Syndrome
Individuals with PPP1R12A-related urogenital and/or brain malformation syndrome (UBMS) usually present with multiple congenital anomalies, commonly including brain and/or urogenital malformations. The brain abnormalities are variable, with the most severe belonging to the holoprosencephaly spectrum and associated with moderate-to-profound intellectual disability, seizures, and feeding difficulties. In individuals without brain involvement, variable degrees of developmental delay and/or intellectual disability may be present, although normal intelligence has been seen in a minority of affected individuals. Eye abnormalities and skeletal issues (kyphoscoliosis, joint contractures) can also be present in individuals of either sex. Regardless of the presence of a brain malformation, affected individuals with a 46,XY chromosome complement may have a disorder of sex development (DSD) with gonadal abnormalities (dysgenetic gonads or streak gonads). Individuals with a 46,XX chromosome complement may have varying degrees of virilization (clitoral hypertrophy, posterior labial fusion, urogenital sinus).
Skeletal dysplasia, mild, with joint laxity and advanced bone age
MedGen UID:
1711043
Concept ID:
C5394341
Disease or Syndrome
CSGALNACT1 deficiency is characterized by mild skeletal dysplasia, joint hypermobility, and advanced bone age. Shortness of long bones is evident prenatally, and patients exhibit short stature and relative macrocephaly. Advanced carpotarsal bone age and monkey-wrench appearance of the femur observed in infancy may disappear with age (Mizumoto et al., 2020).
Holoprosencephaly 14
MedGen UID:
1811868
Concept ID:
C5676994
Disease or Syndrome
Holoprosencephaly-14 (HPE14) is an autosomal recessive condition characterized by severe developmental delay secondary to brain malformations within the holoprosencephaly spectrum (Drissi et al., 2022). For general phenotypic information and a discussion of genetic heterogeneity of holoprosencephaly, see HPE1 (236100).

Professional guidelines

PubMed

Howe DT, Rankin J, Draper ES
Ultrasound Obstet Gynecol 2012 Jan;39(1):75-82. Epub 2011 Dec 5 doi: 10.1002/uog.9069. PMID: 21647999
Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie T
Ultrasound Obstet Gynecol 2005 Jan;25(1):42-9. doi: 10.1002/uog.1787. PMID: 15593321

Recent clinical studies

Etiology

Pillai RLI, He J, Madore L, Murphy K
J Pediatr Health Care 2023 May-Jun;37(3):311-314. Epub 2023 Mar 15 doi: 10.1016/j.pedhc.2023.02.005. PMID: 36925347
Pickup EES, Schlatterer SD, du Plessis AJ, Mulkey SB
Pediatr Neurol 2022 Nov;136:8-14. Epub 2022 Aug 5 doi: 10.1016/j.pediatrneurol.2022.07.011. PMID: 36030624
Yener C, Sayın C, İnan C, Gürkan H, Atlı Eİ, Atlı E, Altan E, Ateş S, Varol F
Taiwan J Obstet Gynecol 2021 Mar;60(2):350-354. doi: 10.1016/j.tjog.2021.01.015. PMID: 33678341
Vawter-Lee MM, Wasserman H, Thomas CW, Nichols B, Nagaraj UD, Schapiro M, Venkatesan C
J Child Neurol 2018 Oct;33(11):693-699. Epub 2018 Jun 26 doi: 10.1177/0883073818783460. PMID: 29944054
Garel C, Moutard ML
Fetal Diagn Ther 2014;35(4):229-39. Epub 2014 Feb 27 doi: 10.1159/000358519. PMID: 24577226

Diagnosis

Pickup EES, Schlatterer SD, du Plessis AJ, Mulkey SB
Pediatr Neurol 2022 Nov;136:8-14. Epub 2022 Aug 5 doi: 10.1016/j.pediatrneurol.2022.07.011. PMID: 36030624
Yener C, Sayın C, İnan C, Gürkan H, Atlı Eİ, Atlı E, Altan E, Ateş S, Varol F
Taiwan J Obstet Gynecol 2021 Mar;60(2):350-354. doi: 10.1016/j.tjog.2021.01.015. PMID: 33678341
Vawter-Lee MM, Wasserman H, Thomas CW, Nichols B, Nagaraj UD, Schapiro M, Venkatesan C
J Child Neurol 2018 Oct;33(11):693-699. Epub 2018 Jun 26 doi: 10.1177/0883073818783460. PMID: 29944054
Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie T
Ultrasound Obstet Gynecol 2005 Jan;25(1):42-9. doi: 10.1002/uog.1787. PMID: 15593321
Fitz CR
Neuroimaging Clin N Am 1994 May;4(2):263-81. PMID: 8081628

Therapy

Pillai RLI, He J, Madore L, Murphy K
J Pediatr Health Care 2023 May-Jun;37(3):311-314. Epub 2023 Mar 15 doi: 10.1016/j.pedhc.2023.02.005. PMID: 36925347
Takeshige N, Uchikado H, Nakashima D, Negoto T, Nagase S, Yoshitomi M, Sakata K, Morioka M
Clin Neurol Neurosurg 2021 Feb;201:106406. Epub 2020 Dec 4 doi: 10.1016/j.clineuro.2020.106406. PMID: 33341457
Musgrove JM, Riley C
Neonatal Netw 2016;35(1):13-8. doi: 10.1891/0730-0832.35.1.13. PMID: 26842535
Howe DT, Rankin J, Draper ES
Ultrasound Obstet Gynecol 2012 Jan;39(1):75-82. Epub 2011 Dec 5 doi: 10.1002/uog.9069. PMID: 21647999

Prognosis

Pillai RLI, He J, Madore L, Murphy K
J Pediatr Health Care 2023 May-Jun;37(3):311-314. Epub 2023 Mar 15 doi: 10.1016/j.pedhc.2023.02.005. PMID: 36925347
Pickup EES, Schlatterer SD, du Plessis AJ, Mulkey SB
Pediatr Neurol 2022 Nov;136:8-14. Epub 2022 Aug 5 doi: 10.1016/j.pediatrneurol.2022.07.011. PMID: 36030624
Garcia-Filion P, Almarzouki H, Fink C, Geffner M, Nelson M, Borchert M
Horm Res Paediatr 2017;88(3-4):251-257. Epub 2017 Aug 22 doi: 10.1159/000479029. PMID: 28848142Free PMC Article
Garel C, Moutard ML
Fetal Diagn Ther 2014;35(4):229-39. Epub 2014 Feb 27 doi: 10.1159/000358519. PMID: 24577226
Borchert M
J Neuroophthalmol 2012 Mar;32(1):58-67. doi: 10.1097/WNO.0b013e31824442b8. PMID: 22330852

Clinical prediction guides

Pillai RLI, He J, Madore L, Murphy K
J Pediatr Health Care 2023 May-Jun;37(3):311-314. Epub 2023 Mar 15 doi: 10.1016/j.pedhc.2023.02.005. PMID: 36925347
Garcia-Filion P, Almarzouki H, Fink C, Geffner M, Nelson M, Borchert M
Horm Res Paediatr 2017;88(3-4):251-257. Epub 2017 Aug 22 doi: 10.1159/000479029. PMID: 28848142Free PMC Article
Mehta A, Hindmarsh PC, Mehta H, Turton JP, Russell-Eggitt I, Taylor D, Chong WK, Dattani MT
Clin Endocrinol (Oxf) 2009 Sep;71(3):376-82. Epub 2009 Mar 6 doi: 10.1111/j.1365-2265.2009.03572.x. PMID: 19320653
Malinger G, Lev D, Kidron D, Heredia F, Hershkovitz R, Lerman-Sagie T
Ultrasound Obstet Gynecol 2005 Jan;25(1):42-9. doi: 10.1002/uog.1787. PMID: 15593321
Raybaud C, Girard N, Lévrier O, Peretti-Viton P, Manera L, Farnarier P
Childs Nerv Syst 2001 Apr;17(4-5):217-22. doi: 10.1007/s003810000389. PMID: 11398940

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