Turricephaly Explained

Synonyms:	Oxycephaly,^[1] Acrocephaly, Hypsicephaly, Oxycephalia, Steeple head, Tower head, Tower skull, High-head syndrome, Turmschädel^[2]
Turricephaly
Field:	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. 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:^[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

See also

• Acrocephalosyndactylia

Further reading

• NINDS Overview
• Ebenezer. Roy. Craniostenosis or oxycephaly. Indian Journal of Ophthalmology. 1960. 8. 3. 77–80. 13819157. 0301-4738.

Notes and References

1. Book: Mosby's Medical Dictionary. 2009. Elsevier. 8th. 24 August 2013.
2. Bodian. Martin. Oxycephaly.. Journal of the American Medical Association. May 6, 1950. 143. 1. 15–8. 10.1001/jama.1950.02910360017006. 15415226.
3. Web site: Turricephaly . 2022-10-29 . Elements of Morphology . National Human Genome Research Institute.
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 . 10.1002/ajmg.a.32612 . 1552-4833 . 2778021 . 19125436.
5. Web site: oxycephaly. TheFreeDictionary. 24 August 2013.
6. Web site: Weerakkody. Yuranga. Oxycephaly. Radiopaedia.org. 24 August 2013. Goel, Ayush.
7. Web site: Turricephaly (Concept Id: C5399823) . 2023-09-14 . www.ncbi.nlm.nih.gov . en.
8. Web site: Oxycephaly (Concept Id: C4551646) . 2023-09-14 . www.ncbi.nlm.nih.gov . en.
9. Web site: Mosaic trisomy 12 (Concept Id: CN073989) . 2023-09-14 . www.ncbi.nlm.nih.gov . en.