Type 3: Craniosynostosis, Early Death, Sporadic Causes & Reasons

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Type 3: Craniosynostosis, Early Death, Sporadic Symptom Checker: Possible causes include Cloverleaf Skull. Check the full list of possible causes and conditions now! Talk to our Chatbot to narrow down your search.

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Possible Causes

Cloverleaf Skull

Mutations in FGFR1 and FGFR2 cause familial and sporadic Pfeiffer syndrome. Hum Mol Genet. 1995 Mar;4(3):323-8. [disorders.eyes.arizona.edu]

3 of the condition. [consultant360.com]

The outlook for people with type 3 Pfeiffer syndrome is also often poor and may result in early death. [medicalnewstoday.com]

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Patel-Bixler Syndrome

Inheritance of craniosynostosis syndromes Many of the major syndromes have autosomal dominant inheritance or are sporadic. [ncbi.nlm.nih.gov]

CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson Syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. [rarediseases.org]

Three types have been described: type 1-milder form; type 2-with cloverleaf skull and elbow ankylosis; and type 3-severe craniosynostosis, without cloverleaf skull, with early [ncbi.nlm.nih.gov]

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Apert Syndrome

We report a second-trimester molecular diagnosis of a sporadic case, based on the ultrasound observation of fetal 'mitten hands' and craniosynostosis. [ncbi.nlm.nih.gov]

Fibroblast growth factor receptor 2 Disease/Condition Craniosynostosis: Apert Syndrome Specimen Type Blood; gDNA. [sickkids.ca]

As expected, complex and multiple cardiac anomalies were frequently associated with early death. [scienceopen.com]

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Familial Scaphocephaly Syndrome

Most cases of simple craniosynostosis, however, are sporadic. [thamburaj.com]

(type 3). [ab-y-ss.com]

death. [abcam.com]

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Gorlin-Chaudhry-Moss Syndrome

Two other sporadic instances have been documented. [ncbi.nlm.nih.gov]

Early death is observed in some patients. [malacards.org]

De Novo Mutations in SLC25A24 Cause a Craniosynostosis Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction. [ghr.nlm.nih.gov]

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Humero-Radial Synostosis

This paper compares the manifestations of sporadic, dominantly inherited and recessively inherited humero-radial synostosis with the aim of determining ways of separating [ncbi.nlm.nih.gov]

Skeletal survey showed bilateral HRS with no evidence of craniosynostosis. [ncbi.nlm.nih.gov]

death. [mendelian.co]

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Cerebellotrigeminal Dermal Dysplasia

So far, 21 patients have been reported and all of them were sporadic observations. We report six additional patients. [ncbi.nlm.nih.gov]

This boy was evaluated shortly after birth because of suspected craniosynostosis. [ncbi.nlm.nih.gov]

death, to a few reported cases diagnosed at a late age without significant associated clinical findings 14 Complete vs. [slideplayer.com]

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Craniosytosis Type 4

To date all cases have occurred sporadically. [onlinelibrary.wiley.com]

We report the third case of inherited unilateral lambdoid craniosynostosis. The genetic pathogenesis of lambdoid craniosynostosis will be discussed. [ncbi.nlm.nih.gov]

does not appear to be inherited) and has "a poor prognosis and severe neurological compromise, generally with early death." III. [slideshare.net]

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Craniosynostosis

Given the predominantly sporadic occurrence of disease, parents are often bewildered by the primary occurrence of nonsyndromic craniosynostosis or even recurrence in their [ncbi.nlm.nih.gov]

Recognize the anatomical characteristics of the individual forms of craniosynostosis. 2. Differentiate deformational plagiocephaly from craniosynostosis. 3. [ncbi.nlm.nih.gov]

[…] in early childhood. [news-medical.net]

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Saethre-Chotzen Syndrome

Saethre-Chotzen syndrome represents one of the most common types of craniosynostosis inherited as an autosomal dominant disorder while sporadic cases have also been reported [ncbi.nlm.nih.gov]

[…] weeks (Pregnancy/Urgent samples), 4-6 weeks (Routine) Protein TWIST homolog 1 (Drosophila), Fibroblast growth factor receptor 3 Disease/Condition Craniosynostosis, Saethre-Chotzen [sickkids.ca]

Types 2 and 3 have occurred only in sporadic cases, and have an increased risk for early death due to severe neurological compromise and respiratory problems. [ojrd.biomedcentral.com]

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Craniosynostosis Type 3

Isolated or nonsyndromic craniosynostosis is sporadic but mostly autosomal dominant. [e-acfs.org]

Etiology of Craniosynostosis The etiology of nonsyndromic craniosynostosis is unknown, and the condition is sporadic in most instances. [aafp.org]

Congenital muscular dystrophy and several mental retardation associate with early death usually in affected patients. – Frontonasal dysplasia 3 (FND3): caused by homozygous [bredagenetics.com]

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Acrocephalopolysyndactyly

Although most cases are sporadic, an autosomal dominant mode of inheritance is well documented. [unboundmedicine.com]

[…] sagittal craniosynostosis lambdoid sutures craniosynostosis pilonidal dimple absent coccyx spina bifida occulta scoliosis coxa valga decreased hip-joint mobility flared ilia [humpath.com]

[…] at birth or early in life See also the symptoms of Aase Syndrome and AaseStillbirth Death during infancy Anemia See also the symptoms of Aase-Smith I syndrome and AaseCirrhosis [webhealthnetwork.com]

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Craniosynostosis-Dandy-Walker Malformation-Hydrocephalus Syndrome

CONCLUSION Inheritance of the disorder remains controversial, with the majority perceived to be sporadic cases. This report suggests an autosomal inheritance. [unboundmedicine.com]

2 Craniosynostosis 3 Craniosynostosis 5 Craniosynostosis 6 Craniosynostosis 7 Craniosynostosis and Dental Anomalies Craniosynostosis Mental Retardation Clefting Syndrome [rgd.mcw.edu]

Differential diagnosis Joubert syndrome SOURCE:OMIM Agenesis of the cerebellar vermis, abnormal eye movenment, ataxia, mental retardation, early death. [perinatology.com]

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Isolated Trigonocephaly

All cases of types 2 and 3 have been sporadic, whereas autosomal dominant inheritance and sporadic cases probably due to fresh new mutations have been seen in type 1. [rrnursingschool.biz]

Solomon Karger Medical and Scientific Publishers, ٠٧‏/٠٣‏/٢٠١١ - 260 من الصفحات Craniosynostosis - the premature fusion of the cranial sutures of an infant’s skull - is a [books.google.com]

Duraltears common after surgical correction of craniosynostosis. [docslide.com.br]

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Baller-Gerold Syndrome

We describe a boy with craniosynostosis and radial aplasia alone and highlight genetic counselling difficulties presented by a sporadic case of this rare syndrome. [ncbi.nlm.nih.gov]

Baller–Gerold syndrome Other names Craniosynostosis-radial aplasia syndrome, Craniosynostosis with radial defects The inheritance pattern of Baller-Gerold Syndrome Baller–Gerold [en.wikipedia.org]

Early death from cardiopulmonary disease or infection is common. [disorders.eyes.arizona.edu]

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Goldberg-Shprintzen Syndrome

[…] et al 31 as a causative mutation in a sporadic Italian male patient with isolated HSCR. [jmg.bmj.com]

ORPHA:2462 Synonym(s): Marfanoid craniosynostosis syndrome SGS Prevalence: Inheritance: Autosomal dominant or Multigenic/multifactorial or Not applicable Age of onset: Infancy [orpha.net]

Besides, prognosis is poor in cases having cardiac complications, if not detected early. [panafrican-med-journal.com]

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Juvenile Polyposis Syndrome

Dysplasia occurred in 31% of syndromic juvenile polyps but not in sporadic juvenile polyps (P 0.0001). [ncbi.nlm.nih.gov]

FGFR -Related Craniosynostosis Syndromes Nathaniel H Robin, Marni J Falk, and Chad R Haldeman-Englert. Initial Posting: October 20, 1998; Last Update: June 7, 2011. [ncbi.nlm.nih.gov]

Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas. Am. J. Med. [invitae.com]

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Hirschsprung Disease Type D-Brachydactyly Syndrome

A founding locus within the RET proto-oncogene may account for a large proportion of apparently sporadic Hirschsprung disease and a subset of cases of sporadic medullary thyroid [malattierare.regione.veneto.it]

[…] and dental anomalies IL11RA Craniosynostosis type 1 TWIST1 Craniosynostosis type 2 MSX2 Craniosynostosis type 3 TCF12 Craniosynostosis type 4 ERF Craniosynostosis type 6 [centogene.com]

Presentation with early sudden neonatal death is rare but should be considered in the diagnostic work-up of sudden deaths in this age group. [link.springer.com]

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Cole-Carpenter Syndrome

Most cases are sporadic ... [kegg.jp]

It also raises the possibility that Cole-Carpenter syndrome is a variant of type 3 OI and was never a distinct, rare bone fragility syndrome and postulate that craniosynostosis [bone-abstracts.org]

Type III This type is characterized by progressive deformity of the long bones and spine and often leads to an early death. [gwumc.edu]

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Osteoglophonic Dwarfism

They were originally described as separate clinical entities with Apert and sporadic Pfeiffer syndrome generally tending to be more severe than Crouzon and Saethre-Chotzen [ommbid.mhmedical.com]

This book represents a comprehensive overview on the subject of craniosynostosis. [books.google.com]

Other distinctive features include progressive cardiac valvular thickening often leading to an early death, toe walking, tracheal stenosis, respiratory insufficiency, and [diseaseinfosearch.org]

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Early-Onset Autosomal Dominant Alzheimer Disease

Mutations were identified in 170 EOAD families and in 18 sporadic cases. [journals.plos.org]

[…] non-communicating hydrocephalus Congenital sodium diarrhea Costello syndrome Cowden syndrome Cranio-osteoarthropathy Crouzon disease Cutis gyrata - acanthosis nigricans - craniosynostosis [csbg.cnb.csic.es]

Lesley Stahl goes to Medellin, Colombia, to meet with members of a large extended family, many of whom carry the gene mutation that amounts to an early death sentence, for [cbsnews.com]

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Juvenile Polyp

This finding suggests that, at least in adults, even the sporadic JPs might carry an inherent potential for malignancy, which has so far only been pointed out for syndromic [ncbi.nlm.nih.gov]

FGFR -Related Craniosynostosis Syndromes Nathaniel H Robin, Marni J Falk, and Chad R Haldeman-Englert. Initial Posting: October 20, 1998; Last Update: June 7, 2011. [ncbi.nlm.nih.gov]

Juvenile polyposis: a case with early presentation and death attributable to adenocarcinoma of the pancreas. Am. J. Med. [invitae.com]

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Hereditary Hyperekplexia

Sporadic hyperekplexia plus syndrome. [pediatricneurosciences.com]

Cortical dysplasia, complex, with other brain malformations PS614039 Cortisone reductase deficiency PS604931 Cowden disease PS158350 Cranioectodermal dysplasia PS218330 Craniosynostosis [omim.org]

death. [blueprintgenetics.com]

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Cutis Marmorata Telangiectatica Congenita

Cutis marmorata telangiectatica congenita (CMTC) is an uncommon sporadic congenital vascular anomaly. [ncbi.nlm.nih.gov]

J Am Acad Dermatol 49 : S167 – S169 2003 Search Google Scholar Export Citation 9 Thompson DN Harkness W Jones BM Hayward RD : Aetiology of herniation of the hindbrain in craniosynostosis [thejns.org]

All but one of the cases reported previously had benign clinical courses without showing an increased risk of early infant death. [ncbi.nlm.nih.gov]

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Craniorhiny

Most cases reported are sporadic, although cases of genetic aberration have been described. [accessmedicine.mhmedical.com]

Craniosynostosis syndrome MedGen UID: 1163 • Concept ID: C0010278 • Disease or Syndrome A congenital disorder characterized by earlier than normal closure of some or all sutures [ncbi.nlm.nih.gov]

These features, referred to as 'Crisponi syndrome' in infancy, can result in early death without advanced care. [mendelian.co]

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Nemaline Myopathy

To review the clinicopathologic features and outcome of sporadic late onset nemaline myopathy (SLONM). [ncbi.nlm.nih.gov]

Midface and upper airway dysgenesis in FGFR2-related craniosynostosis involves multiple tissue-specific and cell cycle effects. Development 145. [icahn.mssm.edu]

Congenital typical nemaline myopathy is not necessarily a static or very slowly progressive disorder and acute cardiac deterioration can lead to early death. [ncbi.nlm.nih.gov]

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Familial Abdominal Aortic Aneurysm

In sporadic patients we found one pathogenic (TGFBR2 p.Ile525Phefs*18) and seven VUS. Thirteen patients had two or more variants. [paperity.org]

Additional craniofacial features include CLEFT PALATE; CRANIOSYNOSTOSIS; HYPERTELORISM; or bifid uvula. [medvik.cz]

Early diagnosis and treatment of this illness is critical for survival. [johnritterfoundation.org]

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Mesomelic Dysplasia Type Savarirayan

So far, two sporadic cases have been described. [malacards.org]

Gabriele Tonni, Mario Lituania and Lucia Rosignoli, Craniosynostosis with wormian bone, bowing of the long bones, unilateral short femur, and focal fibula deficiency: A prenatal [doi.org]

[…] in utero or early neonatal death) make up about 50%. [mhmedical.com]

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Treacher-Collins Syndrome

Although the first classic genetic study by Jones et al. 7 favored an increased paternal age for sporadic occurrences of TCS, mean paternal age among parents of all sporadic [doi.org]

Apert syndrome (Medical Encyclopedia) Cleidocranial dysostosis (Medical Encyclopedia) Craniosynostosis (Medical Encyclopedia) Craniosynostosis repair (Medical Encyclopedia [icdlist.com]

These early theories included abnormal patterns of neural crest cell migration, 18 abnormal domains of cell death, 19, 20 improper cellular differentiation during development [doi.org]

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Hypomandibular Faciocranial Dysostosis

[…] isolated nonketotic type 1 Hyperglycinemia, isolated nonketotic type 2 Hyperglycinemia, isolated nonketotic Hyperglycinemia Hypergonadotropic ovarian failure, familial or sporadic [starrepublic.org]

This report suggests that craniosynostosis is not mandatory for the diagnosis of this condition. [ncbi.nlm.nih.gov]

Death A rare syndrome observed in a family involving related parents and characterized mainly by retarded growth, developmental delay, coarse facial appearance and early [wikidoc.org]

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