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Colpocephaly

MedGen UID:
98131
Concept ID:
C0431384
Congenital Abnormality; Finding
Synonym: colpocephaly
SNOMED CT: Colpocephaly (253160006)
 
HPO: HP:0030048
Monarch Initiative: MONDO:0022236

Definition

Colpocephaly is an anatomic finding in the brain manifested by occipital horns that are disproportionately enlarged in comparison with other parts of the lateral ventricles. [from HPO]

Conditions with this feature

Smith-Lemli-Opitz syndrome
MedGen UID:
61231
Concept ID:
C0175694
Disease or Syndrome
Smith-Lemli-Opitz syndrome (SLOS) is a congenital multiple-anomaly / cognitive impairment syndrome caused by an abnormality in cholesterol metabolism resulting from deficiency of the enzyme 7-dehydrocholesterol (7-DHC) reductase. It is characterized by prenatal and postnatal growth restriction, microcephaly, moderate-to-severe intellectual disability, and multiple major and minor malformations. The malformations include distinctive facial features, cleft palate, cardiac defects, underdeveloped external genitalia in males, postaxial polydactyly, and 2-3 syndactyly of the toes. The clinical spectrum is wide; individuals with normal development and only minor malformations have been described.
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.
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.
Genitopatellar syndrome
MedGen UID:
381208
Concept ID:
C1853566
Disease or Syndrome
KAT6B disorders include genitopatellar syndrome (GPS) and Say-Barber-Biesecker-Young-Simpson variant of Ohdo syndrome (SBBYSS) which are part of a broad phenotypic spectrum with variable expressivity; individuals presenting with a phenotype intermediate between GPS and SBBYSS have been reported. Both phenotypes are characterized by some degree of global developmental delay / intellectual disability; hypotonia; genital abnormalities; and skeletal abnormalities including patellar hypoplasia/agenesis, flexion contractures of the knees and/or hips, and anomalies of the digits, spine, and/or ribs. Congenital heart defects, small bowel malrotation, feeding difficulties, slow growth, cleft palate, hearing loss, and dental anomalies have been observed in individuals with either phenotype.
Progressive encephalopathy with leukodystrophy due to DECR deficiency
MedGen UID:
346552
Concept ID:
C1857252
Disease or Syndrome
2,4-Dienoyl-CoA reductase deficiency (DECRD) is a rare autosomal recessive inborn error of metabolism resulting in mitochondrial dysfunction due to impaired production of NADPH, which is an essential cofactor for several mitochondrial enzymes. Affected individuals have a variable phenotype: some may have severe neurologic symptoms and metabolic dysfunction beginning in early infancy, whereas others may present with more subtle features, such as childhood-onset optic atrophy or intermittent muscle weakness. The variable severity is putatively dependent on the effect of the mutation on the NADK2 enzyme. Biochemical analysis typically shows hyperlysinemia, due to defective activity of the mitochondrial NADP(H)-dependent enzyme AASS (605113), which is usually a benign finding. More severe cases have increased C10:2-carnitine levels, due to defective activity of the enzyme DECR (DECR1; 222745) (summary by Houten et al., 2014 and Pomerantz et al., 2018).
Osteodysplastic primordial dwarfism, type 1
MedGen UID:
347149
Concept ID:
C1859452
Congenital Abnormality
Microcephalic osteodysplastic primordial dwarfism type I is a severe autosomal recessive skeletal dysplasia characterized by dwarfism, microcephaly, and neurologic abnormalities, including mental retardation, brain malformations, and ocular/auditory sensory deficits. Patients often die in early childhood (summary by Pierce and Morse, 2012).
Lissencephaly 4
MedGen UID:
462811
Concept ID:
C3151461
Disease or Syndrome
Lissencephaly-4 (LIS4) is an autosomal recessive neurodevelopmental disorder characterized by lissencephaly, severe brain atrophy, extreme microcephaly (head circumference of more than 10 standard deviations (SD) below the mean), and profound mental retardation. It has also been referred to as 'microlissencephaly' (summary by Bakircioglu et al., 2011 and Alkuraya et al., 2011). For a general phenotypic description and a discussion of genetic heterogeneity of lissencephaly, see LIS1 (607432).
Peroxisome biogenesis disorder 5A (Zellweger)
MedGen UID:
766854
Concept ID:
C3553940
Disease or Syndrome
The peroxisomal biogenesis disorder (PBD) Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 5 (CG5, equivalent to CG10 and CGF) have mutations in the PEX2 gene. For information on the history of PBD complementation groups, see 214100.
Peroxisome biogenesis disorder 6A (Zellweger)
MedGen UID:
766861
Concept ID:
C3553947
Disease or Syndrome
Zellweger syndrome (ZS) is an autosomal recessive multiple congenital anomaly syndrome resulting from disordered peroxisome biogenesis. Affected children present in the newborn period with profound hypotonia, seizures, and inability to feed. Characteristic craniofacial anomalies, eye abnormalities, neuronal migration defects, hepatomegaly, and chondrodysplasia punctata are present. Children with this condition do not show any significant development and usually die in the first year of life (summary by Steinberg et al., 2006). For a complete phenotypic description and a discussion of genetic heterogeneity of Zellweger syndrome, see 214100. Individuals with PBDs of complementation group 7 (CG7, equivalent to CGB) have mutations in the PEX10 gene. For information on the history of PBD complementation groups, see 214100.
Hydrocephalus, nonsyndromic, autosomal recessive 2
MedGen UID:
767605
Concept ID:
C3554691
Disease or Syndrome
Congenital hydrocephalus-2 (HYC2) is a congenital disorder with onset in utero. Affected individuals have hydrocephalus with variably dilated ventricles and variable neurologic sequelae. Some individuals have other brain abnormalities, including lissencephaly, thinning of the corpus callosum, and neuronal heterotopia. Most patients have delayed motor development and some have delayed intellectual development and/or seizures. Additional congenital features, including cardiac septal defects, iris coloboma, and nonspecific dysmorphic features, may be observed. Some patients die in utero, in infancy, or in early childhood, whereas others have long-term survival (summary by Shaheen et al., 2017). For a discussion of genetic heterogeneity of congenital hydrocephalus, see 233600.
Global developmental delay, absent or hypoplastic corpus callosum, and dysmorphic facies
MedGen UID:
934611
Concept ID:
C4310644
Disease or Syndrome
GDACCF is an intellectual disability syndrome apparent soon after birth with neonatal hypotonia, poor feeding, and respiratory insufficiency followed by delayed psychomotor development and intellectual disability with poor speech. Brain imaging shows aplasia or hypoplasia of the corpus callosum. Affected individuals have variable dysmorphic facial features, and some may have dysplastic, cystic kidneys or mild cardiac defects (summary by Stevens et al., 2016).
Khan-Khan-Katsanis syndrome
MedGen UID:
1682553
Concept ID:
C5193110
Disease or Syndrome
Khan-Khan-Katsanis syndrome (3KS) is an autosomal recessive neurodevelopmental disorder with variable involvement of the ocular, renal, skeletal, and sometimes cardiac systems. Affected individuals present at birth with multiple congenital anomalies, defects in urogenital and limb morphogenesis, poor overall growth with microcephaly, and global developmental delay (summary by Khan et al., 2019).
Weiss-kruszka syndrome
MedGen UID:
1684748
Concept ID:
C5231429
Disease or Syndrome
Weiss-Kruszka syndrome is characterized by metopic ridging or synostosis, ptosis, nonspecific dysmorphic features, developmental delay, and autistic features. Brain imaging may identify abnormalities of the corpus callosum. Developmental delay can present as global delay, motor delay, or speech delay. Affected individuals may also have ear anomalies, feeding difficulties (sometimes requiring placement of a gastrostomy tube), and congenital heart defects. There is significant variability in the clinical features, even between affected members of the same family.
Neurodevelopmental disorder with spastic quadriplegia, optic atrophy, seizures, and structural brain anomalies
MedGen UID:
1684884
Concept ID:
C5231442
Disease or Syndrome
Halperin-Birk syndrome (HLBKS) is an autosomal recessive neurodevelopmental disorder characterized by structural brain defects, spastic quadriplegia with multiple contractures, profound developmental delay, seizures, dysmorphism, cataract, and optic nerve atrophy. Death occurs in early childhood (Halperin et al., 2019).
Neurodevelopmental disorder with brain anomalies and with or without vertebral or cardiac anomalies
MedGen UID:
1684772
Concept ID:
C5231481
Disease or Syndrome
Holoprosencephaly 13, X-linked
MedGen UID:
1714826
Concept ID:
C5393308
Disease or Syndrome
X-linked holoprosencephaly-13 (HPE13) is a neurologic disorder characterized by midline developmental defects that mainly affect the brain and craniofacial structure. The severity and manifestations are variable: some patients may have full alobar HPE with cyclopia, whereas others have semilobar HPE or septooptic dysplasia. Dysmorphic features include microcephaly, hypotelorism, low-set ears, micrognathia, and cleft lip/palate. Patients with a more severe phenotype may die in the newborn period, whereas those with a less severe phenotype show global developmental delay. Additional variable features include congenital heart defects and vertebral anomalies. Phenotypic variability may be related to the type of mutation, X-inactivation status, and possible incomplete penetrance. The STAG2 protein is part of the multiprotein cohesin complex involved in chromatid cohesion during DNA replication and transcriptional regulation; HPE13 can thus be classified as a 'cohesinopathy' (summary by Kruszka et al., 2019). For 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).
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities
MedGen UID:
1803456
Concept ID:
C5676965
Disease or Syndrome
Neurodevelopmental disorder with neuromuscular and skeletal abnormalities (NEDNMS) is an autosomal recessive disorder characterized by global developmental delay apparent from infancy or early childhood. The severity of the disorder is highly variable. Affected individuals show impaired intellectual development and motor delay associated with either severe hypotonia or hypertonia and spasticity. Most affected individuals have skeletal defects and dysmorphic facial features. Some may have ocular or auditory problems, peripheral neuropathy, behavioral abnormalities, and nonspecific findings on brain imaging (Kurolap et al., 2022).
Dworschak-Punetha neurodevelopmental syndrome
MedGen UID:
1800957
Concept ID:
C5677017
Disease or Syndrome
Dworschak-Punetha neurodevelopmental syndrome (DWOPNED) is an autosomal recessive disorder characterized mainly by global developmental delay and mildly impaired intellectual development (IQ range 77 to 85), often with behavioral abnormalities, including autism spectrum disorder and hyperactivity. Some affected individuals may have only speech delay or behavioral manifestations. More variable additional features include optic disc hypoplasia, ptosis, hypo- or hyperpigmented skin lesions, nonspecific dysmorphic facial features, and brain imaging abnormalities of the ventricles or corpus callosum. Of note, not all patients exhibit all features, and there is significant inter- and intrafamilial phenotypic variability (Dworschak et al., 2021).
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects
MedGen UID:
1824008
Concept ID:
C5774235
Disease or Syndrome
Neurodevelopmental disorder with craniofacial dysmorphism and skeletal defects (NEDCDS) is characterized by global developmental delay, severely impaired intellectual development with poor or absent speech, characteristic facial features, and variable skeletal abnormalities. Additional features include feeding difficulties, inability to walk or walking with an abnormal gait, and cerebellar or other abnormalities on brain imaging (Reichert et al., 2020).
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities
MedGen UID:
1824024
Concept ID:
C5774251
Disease or Syndrome
Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities (NEDGFC) is an autosomal recessive disorder characterized by these cardinal features apparent from infancy. There is phenotypic variability both in disease manifestations and severity. More severely affected individuals are unable to walk independently, are nonverbal, and may have other anomalies, including congenital heart defects, feeding difficulties, or skeletal defects, whereas others show mildly delayed motor and speech acquisition with mild or borderline intellectual disability (summary by von Elsner et al., 2022).
Cortical dysplasia, complex, with other brain malformations 11
MedGen UID:
1824043
Concept ID:
C5774270
Disease or Syndrome
Complex cortical dysplasia with other brain malformations-11 (CDCBM11) is an autosomal recessive disorder characterized by dilated ventricles and reduced white matter and associated with axonal developmental defects (Qian et al., 2022). For a discussion of genetic heterogeneity of CDCBM, see CDCBM1 (614039).
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).

Recent clinical studies

Etiology

Caceres A, Caceres-Alan A, Caceres-Alan T
Childs Nerv Syst 2024 Feb;40(2):295-301. Epub 2023 Mar 21 doi: 10.1007/s00381-023-05915-2. PMID: 36943435
Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Ebrahimi-Fakhari D, Teinert J, Behne R, Wimmer M, D'Amore A, Eberhardt K, Brechmann B, Ziegler M, Jensen DM, Nagabhyrava P, Geisel G, Carmody E, Shamshad U, Dies KA, Yuskaitis CJ, Salussolia CL, Ebrahimi-Fakhari D, Pearson TS, Saffari A, Ziegler A, Kölker S, Volkmann J, Wiesener A, Bearden DR, Lakhani S, Segal D, Udwadia-Hegde A, Martinuzzi A, Hirst J, Perlman S, Takiyama Y, Xiromerisiou G, Vill K, Walker WO, Shukla A, Dubey Gupta R, Dahl N, Aksoy A, Verhelst H, Delgado MR, Kremlikova Pourova R, Sadek AA, Elkhateeb NM, Blumkin L, Brea-Fernández AJ, Dacruz-Álvarez D, Smol T, Ghoumid J, Miguel D, Heine C, Schlump JU, Langen H, Baets J, Bulk S, Darvish H, Bakhtiari S, Kruer MC, Lim-Melia E, Aydinli N, Alanay Y, El-Rashidy O, Nampoothiri S, Patel C, Beetz C, Bauer P, Yoon G, Guillot M, Miller SP, Bourinaris T, Houlden H, Robelin L, Anheim M, Alamri AS, Mahmoud AAH, Inaloo S, Habibzadeh P, Faghihi MA, Jansen AC, Brock S, Roubertie A, Darras BT, Agrawal PB, Santorelli FM, Gleeson J, Zaki MS, Sheikh SI, Bennett JT, Sahin M
Brain 2020 Oct 1;143(10):2929-2944. doi: 10.1093/brain/awz307. PMID: 32979048Free PMC Article
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
Brain 2013 Nov;136(Pt 11):3378-94. Epub 2013 Sep 20 doi: 10.1093/brain/awt249. PMID: 24056535
Basel-Vanagaite L, Raas-Rotchild A, Kornreich L, Har-Zahav A, Yeshaya J, Latarowski V, Lerer I, Dobyns WB, Shohat M
Am J Med Genet A 2010 Nov;152A(11):2743-8. doi: 10.1002/ajmg.a.33688. PMID: 20979187

Diagnosis

Reis LM, Maheshwari M, Capasso J, Atilla H, Dudakova L, Thompson S, Zitano L, Lay-Son G, Lowry RB, Black J, Lee J, Shue A, Kremlikova Pourova R, Vaneckova M, Skalicka P, Jedlickova J, Trkova M, Williams B, Richard G, Bachman K, Seeley AH, Costakos D, Glaser TM, Levin AV, Liskova P, Murray JC, Semina EV
J Med Genet 2023 Apr;60(4):368-379. Epub 2022 Jul 26 doi: 10.1136/jmg-2022-108646. PMID: 35882526Free PMC Article
Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Moradi B, Taherian R, Tahmasebpour AR, Sanei Taheri M, Kazemi MA, Pak N, Shirazi M, Radmanesh A, Oztekin O, Arab-Ahmadi M
J Clin Ultrasound 2022 Sep;50(7):989-1003. Epub 2022 Apr 30 doi: 10.1002/jcu.23212. PMID: 35488776
Kosky KM, Phenis R, Kiselica AM
Appl Neuropsychol Adult 2022 Nov-Dec;29(6):1681-1687. Epub 2021 Mar 15 doi: 10.1080/23279095.2021.1897008. PMID: 33721503
Nadkarni TD, Menon RK, Shah AH, Goel A
Childs Nerv Syst 2008 May;24(5):541-4. Epub 2007 Oct 26 doi: 10.1007/s00381-007-0518-z. PMID: 17962956

Therapy

Caceres A, Caceres-Alan A, Caceres-Alan T
Childs Nerv Syst 2024 Feb;40(2):295-301. Epub 2023 Mar 21 doi: 10.1007/s00381-023-05915-2. PMID: 36943435
Tort F, Ugarteburu O, Torres MA, García-Villoria J, Girós M, Ruiz A, Ribes A
Pediatrics 2016 Nov;138(5) Epub 2016 Oct 18 doi: 10.1542/peds.2015-4534. PMID: 27940755
Mathur S, Mathur A, Dubey T, Jain S, Mathur S, Agarwal H, Kulshrestha M, Jangid R, Ram C
J Assoc Physicians India 2013 Jun;61(6):418-20. PMID: 24640213
Bekiesińska-Figatowska M, Chrzanowska KH, Sikorska J, Walecki J, Krajewska-Walasek M, Jóźwiak S, Kleijer WJ
Neuroradiology 2000 Jan;42(1):43-7. doi: 10.1007/s002340050011. PMID: 10663471

Prognosis

Akyol ME, Çelegen I, Basar I, Arabacı O
Eur Rev Med Pharmacol Sci 2022 Aug;26(15):5399-5405. doi: 10.26355/eurrev_202208_29407. PMID: 35993634
Ali A, Yalçın R, Ünlüer-Gümüştaş A
Turk J Pediatr 2019;61(4):525-537. doi: 10.24953/turkjped.2019.04.009. PMID: 31990470
Cheong JH, Kim CH, Yang MS, Kim JM
Acta Neurochir Suppl 2012;113:167-71. doi: 10.1007/978-3-7091-0923-6_33. PMID: 22116445
Volpe P, Paladini D, Resta M, Stanziano A, Salvatore M, Quarantelli M, De Robertis V, Buonadonna AL, Caruso G, Gentile M
Ultrasound Obstet Gynecol 2006 May;27(5):509-16. doi: 10.1002/uog.2774. PMID: 16619387
Flores-Sarnat L
J Child Neurol 2002 May;17(5):373-84; discussion 384. doi: 10.1177/088307380201700512. PMID: 12150586

Clinical prediction guides

Abdel-Salam GMH, Abdel-Hamid MS
Clin Genet 2023 Sep;104(3):356-364. Epub 2023 May 15 doi: 10.1111/cge.14357. PMID: 37190898
Bénézit A, Hertz-Pannier L, Dehaene-Lambertz G, Monzalvo K, Germanaud D, Duclap D, Guevara P, Mangin JF, Poupon C, Moutard ML, Dubois J
Cortex 2015 Feb;63:155-71. Epub 2014 Sep 11 doi: 10.1016/j.cortex.2014.08.022. PMID: 25282054
Conti V, Carabalona A, Pallesi-Pocachard E, Parrini E, Leventer RJ, Buhler E, McGillivray G, Michel FJ, Striano P, Mei D, Watrin F, Lise S, Pagnamenta AT, Taylor JC, Kini U, Clayton-Smith J, Novara F, Zuffardi O, Dobyns WB, Scheffer IE, Robertson SP, Berkovic SF, Represa A, Keays DA, Cardoso C, Guerrini R
Brain 2013 Nov;136(Pt 11):3378-94. Epub 2013 Sep 20 doi: 10.1093/brain/awt249. PMID: 24056535
Cheong JH, Kim CH, Yang MS, Kim JM
Acta Neurochir Suppl 2012;113:167-71. doi: 10.1007/978-3-7091-0923-6_33. PMID: 22116445
Landman J, Weitz R, Dulitzki F, Shuper A, Sirota L, Aloni D, Bar-Ziv J, Gadoth N
Brain Dev 1989;11(5):313-6. doi: 10.1016/s0387-7604(89)80059-2. PMID: 2817296

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