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Metopic synostosis

MedGen UID:
395990
Concept ID:
C1860819
Congenital Abnormality; Finding
Synonyms: Metopic Synostoses; Metopic Synostosis; Synostoses, Metopic; Synostosis, Metopic
 
HPO: HP:0011330

Definition

Premature fusion of the metopic suture. [from HPO]

Conditions with this feature

Greig cephalopolysyndactyly syndrome
MedGen UID:
120531
Concept ID:
C0265306
Congenital Abnormality
Typical Greig cephalopolysyndactyly syndrome (GCPS) is characterized by macrocephaly, widely spaced eyes associated with increased interpupillary distance, preaxial polydactyly with or without postaxial polydactyly, and cutaneous syndactyly. Developmental delay, intellectual disability, or seizures appear to be uncommon manifestations (~<10%) of GCPS and may be more common in individuals with large (>300-kb) deletions that encompass GLI3. Approximately 20% of individuals with GCPS have hypoplasia or agenesis of the corpus callosum.
Trigonocephaly 1
MedGen UID:
98473
Concept ID:
C0432122
Congenital Abnormality
Individuals with trigonocephaly have a keel-shaped forehead with wide biparietal diameter, resulting in a triangular shape of the head. Trigonocephaly results from premature closure of the metopic sutures and usually occurs sporadically (summary by Frydman et al., 1984). Genetic Heterogeneity of Isolated Trigonocephaly Also see trigonocephaly-2 (TRIGNO2; 614485), caused by mutation in the FREM1 gene (608944) on chromosome 9p22.
Simpson-Golabi-Behmel syndrome type 1
MedGen UID:
162917
Concept ID:
C0796154
Disease or Syndrome
Simpson-Golabi-Behmel syndrome type 1 (SGBS1) is characterized by pre- and postnatal macrosomia; distinctive craniofacial features (including macrocephaly, coarse facial features, macrostomia, macroglossia, and palatal abnormalities); and commonly, mild-to-severe intellectual disability with or without structural brain anomalies. Other variable findings include supernumerary nipples, diastasis recti / umbilical hernia, congenital heart defects, diaphragmatic hernia, genitourinary defects, and gastrointestinal anomalies. Skeletal anomalies can include vertebral fusion, scoliosis, rib anomalies, and congenital hip dislocation. Hand anomalies can include large hands and postaxial polydactyly. Affected individuals are at increased risk for embryonal tumors including Wilms tumor, hepatoblastoma, adrenal neuroblastoma, gonadoblastoma, hepatocellular carcinoma, and medulloblastoma.
Craniosynostosis 4
MedGen UID:
322167
Concept ID:
C1833340
Disease or Syndrome
Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Joubert syndrome 2
MedGen UID:
334114
Concept ID:
C1842577
Disease or Syndrome
Classic Joubert syndrome (JS) is characterized by three primary findings: A distinctive cerebellar and brain stem malformation called the molar tooth sign (MTS). Hypotonia. Developmental delays. Often these findings are accompanied by episodic tachypnea or apnea and/or atypical eye movements. In general, the breathing abnormalities improve with age, truncal ataxia develops over time, and acquisition of gross motor milestones is delayed. Cognitive abilities are variable, ranging from severe intellectual disability to normal. Additional findings can include retinal dystrophy, renal disease, ocular colobomas, occipital encephalocele, hepatic fibrosis, polydactyly, oral hamartomas, and endocrine abnormalities. Both intra- and interfamilial variation are seen.
FG syndrome 5
MedGen UID:
336854
Concept ID:
C1845119
Disease or Syndrome
Additional features seen in some people with FG syndrome include widely set eyes (hypertelorism), an upswept frontal hairline, and a large head compared to body size (relative macrocephaly). Other health problems have also been reported, including heart defects, seizures, undescended testes (cryptorchidism) in males, and a soft out-pouching in the lower abdomen (an inguinal hernia).\n\nThe physical features of FG syndrome include weak muscle tone (hypotonia), broad thumbs, and wide first (big) toes. Abnormalities of the tissue connecting the left and right halves of the brain (the corpus callosum) are also common. Most affected individuals have constipation, and many have abnormalities of the anus such as an obstruction of the anal opening (imperforate anus). People with FG syndrome also tend to have a distinctive facial appearance including small, underdeveloped ears; a tall, prominent forehead; and outside corners of the eyes that point downward (down-slanting palpebral fissures).\n\nFG syndrome affects intelligence and behavior. Almost everyone with the condition has intellectual disability, which ranges from mild to severe. Affected individuals tend to be friendly, inquisitive, and hyperactive, with a short attention span. Compared to people with other forms of intellectual disability, their socialization and daily living skills are strong, while verbal communication and language skills tend to be weaker.\n\nFG syndrome is a genetic condition that affects many parts of the body and occurs almost exclusively in males. "FG" represents the surname initials of the first family diagnosed with the disorder.
Craniosynostosis 2
MedGen UID:
346753
Concept ID:
C1858160
Disease or Syndrome
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Cranioectodermal dysplasia 2
MedGen UID:
462224
Concept ID:
C3150874
Disease or Syndrome
Cranioectodermal dysplasia (CED) is a ciliopathy with skeletal involvement (narrow thorax, shortened proximal limbs, syndactyly, polydactyly, brachydactyly), ectodermal features (widely spaced hypoplastic teeth, hypodontia, sparse hair, skin laxity, abnormal nails), joint laxity, growth deficiency, and characteristic facial features (frontal bossing, low-set simple ears, high forehead, telecanthus, epicanthal folds, full cheeks, everted lower lip). Most affected children develop nephronophthisis that often leads to end-stage kidney disease in infancy or childhood, a major cause of morbidity and mortality. Hepatic fibrosis and retinal dystrophy are also observed. Dolichocephaly, often secondary to sagittal craniosynostosis, is a primary manifestation that distinguishes CED from most other ciliopathies. Brain malformations and developmental delay may also occur.
CHROMOSOME 1p32-p31 DELETION SYNDROME
MedGen UID:
462386
Concept ID:
C3151036
Disease or Syndrome
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).
Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).
Trigonocephaly 2
MedGen UID:
482604
Concept ID:
C3280974
Congenital Abnormality
Trigonocephaly occurs predominantly as a nonsyndromic craniosynostosis and has an estimated prevalence of between 1:15,000 and 1:68,000 live births (summary by Vissers et al., 2011). For a discussion of genetic heterogeneity of isolated trigonocephaly, see TRIGNO1 (190440). A syndromic form of trigonocephaly is associated with monosomy for an 8-Mb interval of chromosome 9p22.3 (see 158170).
Multiple congenital anomalies-hypotonia-seizures syndrome 3
MedGen UID:
815686
Concept ID:
C3809356
Disease or Syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome is an autosomal recessive disorder characterized by neonatal hypotonia, lack of psychomotor development, seizures, dysmorphic features, and variable congenital anomalies involving the cardiac, urinary, and gastrointestinal systems. Most affected individuals die before 3 years of age (summary by Maydan et al., 2011). 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 genetic heterogeneity of GPI biosynthesis defects, see GPIBD1 (610293).
Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
MedGen UID:
1656239
Concept ID:
C4750837
Disease or Syndrome
ASXL3-related disorder is characterized by developmental delay or intellectual disability, typically in the moderate to severe range, with speech and language delay and/or absent speech. Affected individuals may also display autistic features. There may be issues with feeding. While dysmorphic facial features have been described, they are typically nonspecific. Affected individuals may also have hypotonia that can transition to spasticity resulting in unusual posture with flexion contractions of the elbows, wrists, and fingers. Other findings may include poor postnatal growth, strabismus, seizures, sleep disturbance, and dental anomalies.
Intellectual developmental disorder with hypotonia and behavioral abnormalities
MedGen UID:
1684709
Concept ID:
C5231489
Disease or Syndrome
Intellectual developmental disorder with hypotonia and behavioral abnormalities (IDDHBA) is a neurodevelopmental disorder characterized by onset of hypotonia and variably impaired global developmental delay in infancy. Affected individuals tend to have learning disability, usually requiring special schooling, as well as behavioral abnormalities, such as autistic features and attention deficit-hyperactivity disorder (ADHD). Additional more variable features may include nonspecific dysmorphic facial features, congenital heart defects, visual or ocular movement anomalies, and poor feeding and/or gastroesophageal reflux (summary by Calpena et al., 2019).
Multiple congenital anomalies-neurodevelopmental syndrome, X-linked
MedGen UID:
1788942
Concept ID:
C5542341
Disease or Syndrome
X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Pathogenetically, the disorder results from disrupted gene expression and signaling during embryogenesis, thus affecting multiple systems (summary by Tripolszki et al., 2021 and Beck et al., 2021). Beck et al. (2021) referred to the disorder as LINKED syndrome (LINKage-specific deubiquitylation deficiency-induced Embryonic Defects).
White-Kernohan syndrome
MedGen UID:
1785087
Concept ID:
C5543635
Disease or Syndrome
White-Kernohan syndrome (WHIKERS) is a neurodevelopmental disorder characterized by global developmental delay with variably impaired intellectual development, hypotonia, and characteristic facial features. Some patients may have abnormalities of other systems, including genitourinary and skeletal (summary by White et al., 2021).
Neurodevelopmental disorder with poor growth and skeletal anomalies
MedGen UID:
1804653
Concept ID:
C5676990
Disease or Syndrome
Neurodevelopmental disorder with poor growth and skeletal anomalies (NEDGS) is an autosomal recessive disorder characterized by global developmental delay and impaired intellectual development apparent from infancy. Affected individuals have hypotonia, delayed walking, poor or absent speech, and variable skeletal anomalies. More variable features include seizures, nonspecific dysmorphic facial features, oculomotor apraxia, and nonspecific brain imaging abnormalities (Iqbal et al., 2021).
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
MedGen UID:
1823982
Concept ID:
C5774209
Disease or Syndrome
Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities (NEDSMBA) is an autosomal recessive disorder characterized by a core phenotype of moderate to profound developmental delay, progressive microcephaly, epilepsy, and periventricular calcifications (summary by Rosenhahn et al., 2022).

Professional guidelines

PubMed

DeFreitas CA, Carr SR, Merck DL, Byrne MM, Linden OE, Stiles EA, Sullivan SR, Taylor HO
Plast Reconstr Surg 2022 Nov 1;150(5):1084-1089. Epub 2022 Aug 24 doi: 10.1097/PRS.0000000000009608. PMID: 35998125
Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM
Genet Med 2020 Sep;22(9):1498-1506. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0817-2. PMID: 32499606Free PMC Article
Dobbs TD, Salahuddin O, Jayamohan J, Richards P, Magdum S, Wall SA, Johnson D
Plast Reconstr Surg 2017 Jun;139(6):1325e-1332e. doi: 10.1097/PRS.0000000000003371. PMID: 28538575

Recent clinical studies

Etiology

Michaëlsson I, Skoglund T, Hallén T, Olsson R, Maltese G, Tarnow P, Bhatti-Søfteland M, Zetterberg H, Blennow K, Kölby L
World Neurosurg 2023 May;173:e593-e599. Epub 2023 Feb 28 doi: 10.1016/j.wneu.2023.02.102. PMID: 36863456
Chiang SN, Peterson EC, Lauzier DC, McEvoy SD, Skolnick GB, Naidoo SD, Smyth MD, Patel KB
J Neurosurg Pediatr 2022 Dec 1;30(6):595-601. Epub 2022 Sep 30 doi: 10.3171/2022.8.PEDS22214. PMID: 36577049
Vinchon M
Neurochirurgie 2019 Nov;65(5):239-245. Epub 2019 Sep 25 doi: 10.1016/j.neuchi.2019.09.006. PMID: 31562880
Abouhassan W, Chao JK, Murthy AS
J Craniofac Surg 2018 Jul;29(5):e492-e497. doi: 10.1097/SCS.0000000000004507. PMID: 29561489
Hicdonmez T
Turk Neurosurg 2017;27(4):585-589. doi: 10.5137/1019-5149.JTN.16886-15.2. PMID: 27476922

Diagnosis

DeFreitas CA, Carr SR, Merck DL, Byrne MM, Linden OE, Stiles EA, Sullivan SR, Taylor HO
Plast Reconstr Surg 2022 Nov 1;150(5):1084-1089. Epub 2022 Aug 24 doi: 10.1097/PRS.0000000000009608. PMID: 35998125
Blum JD, Beiriger J, Kalmar C, Avery RA, Lang SS, Villavisanis DF, Cheung L, Cho DY, Tao W, Whitaker R, Bartlett SP, Taylor JA, Goldstein JA, Swanson JW
J Craniofac Surg 2022 Nov-Dec 01;33(8):2372-2378. Epub 2022 Jul 22 doi: 10.1097/SCS.0000000000008748. PMID: 35864584
Hayek GM, Jimenez DF, Yates DM
Oral Maxillofac Surg Clin North Am 2022 Aug;34(3):381-394. Epub 2022 Jul 2 doi: 10.1016/j.coms.2022.02.002. PMID: 35787823
Vinchon M
Neurochirurgie 2019 Nov;65(5):239-245. Epub 2019 Sep 25 doi: 10.1016/j.neuchi.2019.09.006. PMID: 31562880
Hicdonmez T
Turk Neurosurg 2017;27(4):585-589. doi: 10.5137/1019-5149.JTN.16886-15.2. PMID: 27476922

Therapy

Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780
di Rocco F, Gleizal A, Lohkamp L, Szathmari A, Paulus C, Mottolese C
Childs Nerv Syst 2018 Dec;34(12):2481-2484. Epub 2018 Jul 27 doi: 10.1007/s00381-018-3928-1. PMID: 30054806
Abouhassan W, Chao JK, Murthy AS
J Craniofac Surg 2018 Jul;29(5):e492-e497. doi: 10.1097/SCS.0000000000004507. PMID: 29561489
Madaree A
J Craniofac Surg 2018 Jan;29(1):126-129. doi: 10.1097/SCS.0000000000004123. PMID: 29135736
Beckett JS, Chadha P, Persing JA, Steinbacher DM
Plast Reconstr Surg 2012 Sep;130(3):442e-447e. doi: 10.1097/PRS.0b013e31825dc244. PMID: 22929268

Prognosis

Calpena E, Cuellar A, Bala K, Swagemakers SMA, Koelling N, McGowan SJ, Phipps JM, Balasubramanian M, Cunningham ML, Douzgou S, Lattanzi W, Morton JEV, Shears D, Weber A, Wilson LC, Lord H, Lester T, Johnson D, Wall SA, Twigg SRF, Mathijssen IMJ, Boardman-Pretty F; Genomics England Research Consortium, Boyadjiev SA, Wilkie AOM
Genet Med 2020 Sep;22(9):1498-1506. Epub 2020 Jun 5 doi: 10.1038/s41436-020-0817-2. PMID: 32499606Free PMC Article
Bowen L, Benech R, Shafi A, Gallo P, Kandasamy J, Kaliaperumal C, Campbell DF
J Craniofac Surg 2020 Jan/Feb;31(1):292-293. doi: 10.1097/SCS.0000000000005927. PMID: 31794452
Kljajić M, Maltese G, Tarnow P, Sand P, Kölby L
Plast Reconstr Surg 2019 May;143(5):1037e-1052e. doi: 10.1097/PRS.0000000000005515. PMID: 30789480
Hicdonmez T
Turk Neurosurg 2017;27(4):585-589. doi: 10.5137/1019-5149.JTN.16886-15.2. PMID: 27476922
van der Meulen J
Childs Nerv Syst 2012 Sep;28(9):1359-67. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1803-z. PMID: 22872249Free PMC Article

Clinical prediction guides

Junn AH, Long AS, Hauc SC, Almeida MN, Alper DP, Rivera JC, Mayes L, Persing JA, Alperovich M
Childs Nerv Syst 2023 Jul;39(7):1921-1928. Epub 2023 Mar 6 doi: 10.1007/s00381-023-05908-1. PMID: 36877207
Michaëlsson I, Skoglund T, Hallén T, Olsson R, Maltese G, Tarnow P, Bhatti-Søfteland M, Zetterberg H, Blennow K, Kölby L
World Neurosurg 2023 May;173:e593-e599. Epub 2023 Feb 28 doi: 10.1016/j.wneu.2023.02.102. PMID: 36863456
Chandler L, Park KE, Allam O, Mozaffari MA, Khetpal S, Smetona J, Pourtaheri N, Lu X, Persing JA, Alperovich M
Int J Oral Maxillofac Surg 2021 Aug;50(8):1040-1046. Epub 2021 Jan 20 doi: 10.1016/j.ijom.2020.11.022. PMID: 33483210
Bowen L, Benech R, Shafi A, Gallo P, Kandasamy J, Kaliaperumal C, Campbell DF
J Craniofac Surg 2020 Jan/Feb;31(1):292-293. doi: 10.1097/SCS.0000000000005927. PMID: 31794452
Mocquard C, Aillet S, Riffaud L
Neurochirurgie 2019 Nov;65(5):246-251. Epub 2019 Sep 27 doi: 10.1016/j.neuchi.2019.09.014. PMID: 31568780

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