Turricephaly

Turricephaly
Other names	Oxycephaly, [1] Acrocephaly, Hypsicephaly, [1] Oxycephalia, [1] Steeple head, [1] Tower head, [1] Tower skull, High-head syndrome, Turmschädel [2]
Specialty	Dysmorphology
Symptoms	reduced head length and width for age

Turricephaly is a type of cephalic disorder where the head appears tall with a small length and width. ^{[3] [4]} It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, ^[5] or it may be used to describe the premature fusion of all sutures. ^[2] It should be differentiated from Crouzon syndrome. Oxycephaly (or acrocephaly) is a form of turricephaly where the head is cone-shaped, and is the most severe of the craniosynostoses. ^[4]

Presentation

Common associations

It may be associated with: ^[6]

• 8th cranial nerve lesion
• Optic nerve compression
• Intellectual disability
• Syndactyly

Conditions with turricephaly

Conditions with turricephaly include: ^{[7] [8]}

• Achondrogenesis, type IA
• Acrocephalopolydactyly
• Acrocephalosyndactyly type V (Goodman syndrome)
• Acrocraniofacial dysostosis
• Alopecia - contractures - dwarfism - intellectual disability syndrome
• CEBALID syndrome
• Chromosome 1q21.1 deletion syndrome
• Chromosome 4q32.1-q32.2 triplication syndrome
• Chromosome 5p13 duplication syndrome
• Cole-Carpenter syndrome 2
• Craniorhiny
• Craniosynostosis (nonsyndromic) 6
• Craniosynostosis, Boston-type (nonsyndromic)
• Craniosynostosis and dental anomalies
• Fontaine progeroid syndrome
• Gomez Lopez Hernandez syndrome
• Intellectual developmental disorder, autosomal dominant 65
• MEGF8-related Carpenter syndrome
• Mosaic trisomy 12 ^[9]
• Myopathy, epilepsy, and progressive cerebral atrophy
• Peroxisome biogenesis disorder 2A (Zellweger)
• Potocki-Shaffer syndrome
• Saethre-Chotzen syndrome
• Spondyloenchondrodysplasia with immune dysregulation
• Spondylometaphyseal dysplasia, Sedaghatian type
• Summitt syndrome
• Teebi-Shaltout syndrome
• Tolchin-Le Caignec syndrome
• TWIST1-related craniosynostosis
• Usmani-Riazuddin syndrome, autosomal dominant

• 
  Carpenter syndrome
• 
  Congenital syphilis
• 
  Hydrocephalus
• 
  Microcephaly
• 
  Pfeiffer syndrome
• 
  Saethre-Chotzen syndrome

See also

• Acrocephalosyndactylia

References

1. Mosby's Medical Dictionary (8th ed.). Elsevier. 2009. Retrieved 24 August 2013.
2. Bodian, Martin (May 6, 1950). "Oxycephaly". Journal of the American Medical Association. 143 (1): 15–8. doi:10.1001/jama.1950.02910360017006. PMID   15415226.
3. "Turricephaly". Elements of Morphology. National Human Genome Research Institute. Retrieved 2022-10-29.
4. Allanson, Judith E.; Cunniff, Christopher; Hoyme, H. Eugene; McGaughran, Julie; Muenke, Max; Neri, Giovanni (January 2009). "Elements of morphology: standard terminology for the head and face". American Journal of Medical Genetics. Part A. 149A (1): 6–28. doi:10.1002/ajmg.a.32612. ISSN   1552-4833. PMC   2778021 . PMID   19125436.
5. "oxycephaly". TheFreeDictionary. Retrieved 24 August 2013.
6. Weerakkody, Yuranga; Goel, Ayush. "Oxycephaly". Radiopaedia.org. Retrieved 24 August 2013.
7. "Turricephaly (Concept Id: C5399823)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.
8. "Oxycephaly (Concept Id: C4551646)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.
9. "Mosaic trisomy 12 (Concept Id: CN073989)". www.ncbi.nlm.nih.gov. Retrieved 2023-09-14.^{[ dead link ]}

Further reading

• NINDS Overview
• Ebenezer, Roy (1960). "Craniostenosis or oxycephaly". Indian Journal of Ophthalmology. 8 (3): 77–80. ISSN   0301-4738. PMID   13819157.