Turricephaly is a type of

cephalic disorder Cephalic disorders () are Congenital disorder, congenital conditions that stem from damage to, or abnormal development of, the budding nervous system. Cephalic disorders are not necessarily caused by a single factor, but may be influenced by her ...

where the head appears tall with a small length and width. It is due to premature closure of the

coronal suture The coronal suture is a dense, fibrous connective tissue joint that separates the two parietal bones from the frontal bone of the skull. Structure The coronal suture lies between the paired parietal bones and the frontal bone of the skull ...

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 Crouzon syndrome is an autosomal dominant genetic disorder known as a branchial arch syndrome. Specifically, this syndrome affects the first branchial (or pharyngeal) arch, which is the precursor of the maxilla and mandible. Because the branchia ...

. 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 In neuroanatomy, the optic nerve, also known as the second cranial nerve, cranial nerve II, or simply CN II, is a paired cranial nerve that transmits visual system, visual information from the retina to the brain. In humans, the optic nerve i ...

compression *

Intellectual disability Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental ...

Syndactyly Syndactyly is a condition wherein two or more digits are fused together. It occurs normally in some mammals, but is an unusual condition in humans. The term is . Classification Syndactyly can be simple or complex. * In simple syndactyly, adja ...

Conditions with turricephaly

Conditions with turricephaly include: *

Achondrogenesis Achondrogenesis is a number of disorders that are the most severe form of congenital chondrodysplasia (malformation of bones and cartilage). These conditions are characterized by a small body, short limbs, and other skeletal abnormalities. As a re ...

, 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 Craniorhiny is a rare autosomal dominant syndrome characterized by craniosynostosis (oxycephaly) and facial anomalies around the nose base and lips. Signs and symptoms Features of this condition include: * Head or neck: anteverted nares, wide nos ...

* Craniosynostosis (nonsyndromic) 6 * Craniosynostosis, Boston-type (nonsyndromic) *

Craniosynostosis and dental anomalies Craniosynostosis and dental anomalies (CRSDA, also known as Kreiborg-Pakistani syndrome) is an autosomal recessive syndrome characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies. Dental anomalies seen in this condition inclu ...

* Fontaine progeroid syndrome * Gomez Lopez Hernandez syndrome *

Intellectual developmental disorder Intellectual disability (ID), also known as general learning disability (in the United Kingdom), and formerly mental retardation (in the United States), Rosa's Law, Pub. L. 111-256124 Stat. 2643(2010).Archive is a generalized neurodevelopmental d ...

autosomal dominant In genetics, dominance is the phenomenon of one variant (allele) of a gene on a chromosome masking or overriding the Phenotype, effect of a different variant of the same gene on Homologous chromosome, the other copy of the chromosome. The firs ...

65 *

MEGF8 ''Megf8'' also known as Multiple Epidermal Growth Factor-like Domains 8, is a protein coding gene that encodes a single pass membrane protein, known to participate in developmental regulation and cellular communication. It is located on chromoso ...

-related

Carpenter syndrome Carpenter syndrome, also called acrocephalopolysyndactyly type II, is an extremely rare autosome, autosomal dominance (genetics), recessive congenital disorder characterized by craniofacial surgery, craniofacial malformations, obesity, syndactyly ...

* Mosaic trisomy 12 * Myopathy, epilepsy, and progressive cerebral atrophy * Peroxisome biogenesis disorder 2A (Zellweger) * Potocki-Shaffer syndrome * Saethre-Chotzen syndrome *

Spondyloenchondrodysplasia Spondyloenchondrodysplasia is the medical term for a rare spectrum of symptoms that are inherited following an autosomal recessive inheritance pattern. Skeletal anomalies (including abnormal bone growths) are the usual symptoms of the disorder, al ...

with

immune dysregulation In biology, immunity is the state of being insusceptible or resistant to a noxious agent or process, especially a pathogen or infectious disease. Immunity may occur naturally or be produced by prior exposure or immunization. Innate and adaptive ...

* Spondylometaphyseal dysplasia, Sedaghatian type * Summitt syndrome * Teebi-Shaltout syndrome * Tolchin-Le Caignec syndrome *

TWIST1 Twist-related protein 1 (TWIST1) also known as class A basic helix–loop–helix protein 38 (bHLHa38) is a basic helix-loop-helix transcription factor that in humans is encoded by the ''TWIST1'' gene. Function Basic helix-loop-helix (bHLH) t ...

-related craniosynostosis * Usmani-Riazuddin syndrome, autosomal dominant File:Acrocephalie 1.jpg, Carpenter syndrome File:Syphilis and Marriage 5 (Acrocephalus).jpg,

Congenital syphilis Congenital syphilis is syphilis that occurs when a mother with untreated syphilis passes the infection to her baby during pregnancy or at childbirth, birth. It may present in the fetus, infant, or later. Clinical features vary and differ between ...

File:Oxyhydrocephalus.jpg,

Hydrocephalus Hydrocephalus is a condition in which cerebrospinal fluid (CSF) builds up within the brain, which can cause pressure to increase in the skull. Symptoms may vary according to age. Headaches and double vision are common. Elderly adults with n ...

Turricephalus (microcephalic type).jpg,

Microcephaly Microcephaly (from Neo-Latin ''microcephalia'', from Ancient Greek μικρός ''mikrós'' "small" and κεφαλή ''kephalé'' "head") is a medical condition involving a smaller-than-normal head. Microcephaly may be present at birth or it m ...

Lewin Acrocephaly 1.jpg,

Pfeiffer syndrome Pfeiffer syndrome is a rare genetic disorder, characterized by the premature fusion of certain bones of the human skull, skull (craniosynostosis), which affects the shape of the head and face. The syndrome includes abnormalities of the hands an ...

Merlini 9.jpg, Saethre-Chotzen syndrome

Diagnosis

Treatment

References

External links

{{Congenital malformations and deformations of musculoskeletal system Congenital disorders of musculoskeletal system Rare diseases