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Turricephaly
Other names	Oxycephaly, Acrocephaly, Hypsicephaly, Oxycephalia, Steeple head, Tower head, Tower skull, High-head syndrome, Turmschädel
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. It is due to premature closure of the coronal suture plus any other suture, like the lambdoid, or it may be used to describe the premature fusion of all sutures. 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.

Presentation

Common associations

It may be associated with:

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

Conditions with turricephaly

Conditions with turricephaly include:

• 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
• 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

Diagnosis

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Treatment

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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.

Further reading

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

External links

• Congenital disorders of musculoskeletal system
• Rare diseases