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Craniofacial dysostosis

MedGen UID:
1162
Concept ID:
C0010273
Disease or Syndrome
Synonyms: Craniofacial dysostosis type 1; CRANIOFACIAL DYSOSTOSIS, TYPE I; Crouzon craniofacial dysostosis; Crouzon disease; Crouzon syndrome
SNOMED CT: Crouzon craniofacial dysostosis (28861008); Crouzon syndrome (28861008); Crouzon's disease (28861008)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FGFR2 (10q26.13)
 
HPO: HP:0004439
Monarch Initiative: MONDO:0007405
OMIM®: 123500
Orphanet: ORPHA207

Definition

Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000). [from OMIM]

Additional description

From MedlinePlus Genetics
Crouzon syndrome is a genetic disorder characterized by the premature fusion of certain skull bones (craniosynostosis). This early fusion prevents the skull from growing normally and affects the shape of the head and face.

Many features of Crouzon syndrome result from the premature fusion of the skull bones. Abnormal growth of these bones leads to wide-set, bulging eyes and vision problems caused by shallow eye sockets; eyes that do not point in the same direction (strabismus); a beaked nose; and an underdeveloped upper jaw. In addition, people with Crouzon syndrome may have dental problems and hearing loss, which is sometimes accompanied by narrow ear canals. A few individuals with Crouzon syndrome have an opening in the lip and the roof of the mouth (cleft lip and palate). The severity of these signs and symptoms varies among affected people. Individuals with Crouzon syndrome usually have normal intelligence.  https://medlineplus.gov/genetics/condition/crouzon-syndrome

Clinical features

From HPO
Dysgerminoma
MedGen UID:
41680
Concept ID:
C0013377
Neoplastic Process
The presence of a dysgerminoma, i.e., an undifferentiated germ cell tumor of the ovary.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Atresia of the external auditory canal
MedGen UID:
78613
Concept ID:
C0266597
Congenital Abnormality
Absence or failure to form of the external auditory canal.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Sleep apnea
MedGen UID:
11458
Concept ID:
C0037315
Disease or Syndrome
An intermittent cessation of airflow at the mouth and nose during sleep is known as sleep apnea. Apneas that last at least 10 seconds are considered significant, but individuals with sleep apnea may experience apneas lasting from 20 seconds up to 2 or 3 minutes. Patients may have up to 15 events per hour of sleep.
Intellectual disability
MedGen UID:
811461
Concept ID:
C3714756
Mental or Behavioral Dysfunction
Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.
Craniofacial dysostosis
MedGen UID:
1162
Concept ID:
C0010273
Disease or Syndrome
Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Brachycephaly
MedGen UID:
113165
Concept ID:
C0221356
Congenital Abnormality
An abnormality of skull shape characterized by a decreased anterior-posterior diameter. That is, a cephalic index greater than 81%. Alternatively, an apparently shortened anteroposterior dimension (length) of the head compared to width.
Hypoplasia of the maxilla
MedGen UID:
66804
Concept ID:
C0240310
Congenital Abnormality
Abnormally small dimension of the Maxilla. Usually creating a malocclusion or malalignment between the upper and lower teeth or resulting in a deficient amount of projection of the base of the nose and lower midface region.
Sagittal craniosynostosis
MedGen UID:
140921
Concept ID:
C0432123
Congenital Abnormality
A kind of craniosynostosis affecting the sagittal suture.
Lambdoidal craniosynostosis
MedGen UID:
322167
Concept ID:
C1833340
Disease or Syndrome
Craniosynostosis (CRS) is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Craniosynostosis-4 (CRS4) includes lambdoid, sagittal, metopic, coronal, and multisuture forms. For a discussion of genetic heterogeneity of craniosynostosis, see CRS1 (123100).
Abnormality of the cervical spine
MedGen UID:
338935
Concept ID:
C1852464
Anatomical Abnormality
Any abnormality of the cervical vertebral column.
Coronal craniosynostosis
MedGen UID:
344694
Concept ID:
C1856266
Congenital Abnormality
Premature closure of the coronal suture of skull.
Shallow orbits
MedGen UID:
351328
Concept ID:
C1865244
Finding
Reduced depth of the orbits associated with prominent-appearing ocular globes.
Conjunctivitis
MedGen UID:
1093
Concept ID:
C0009763
Disease or Syndrome
Inflammation of the conjunctiva.
Keratitis
MedGen UID:
44013
Concept ID:
C0022568
Disease or Syndrome
Inflammation of the cornea.
Dental crowding
MedGen UID:
11850
Concept ID:
C0040433
Finding
Changes in alignment of teeth in the dental arch
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Mandibular prognathia
MedGen UID:
98316
Concept ID:
C0399526
Finding
Abnormal prominence of the chin related to increased length of the mandible.
Deviated nasal septum
MedGen UID:
154288
Concept ID:
C0549397
Finding
Positioning of the nasal septum to the right or left in contrast to the normal midline position of the nasal septum.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Proptosis
MedGen UID:
41917
Concept ID:
C0015300
Disease or Syndrome
An eye that is protruding anterior to the plane of the face to a greater extent than is typical.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Optic atrophy
MedGen UID:
18180
Concept ID:
C0029124
Disease or Syndrome
Atrophy of the optic nerve. Optic atrophy results from the death of the retinal ganglion cell axons that comprise the optic nerve and manifesting as a pale optic nerve on fundoscopy.
Strabismus
MedGen UID:
21337
Concept ID:
C0038379
Disease or Syndrome
A misalignment of the eyes so that the visual axes deviate from bifoveal fixation. The classification of strabismus may be based on a number of features including the relative position of the eyes, whether the deviation is latent or manifest, intermittent or constant, concomitant or otherwise and according to the age of onset and the relevance of any associated refractive error.
Visual impairment
MedGen UID:
777085
Concept ID:
C3665347
Finding
Visual impairment (or vision impairment) is vision loss (of a person) to such a degree as to qualify as an additional support need through a significant limitation of visual capability resulting from either disease, trauma, or congenital or degenerative conditions that cannot be corrected by conventional means, such as refractive correction, medication, or surgery.

Conditions with this feature

Craniofacial dysostosis
MedGen UID:
1162
Concept ID:
C0010273
Disease or Syndrome
Crouzon syndrome is an autosomal dominant disorder characterized by craniosynostosis causing secondary alterations of the facial bones and facial structure. Common features include hypertelorism, exophthalmos and external strabismus, parrot-beaked nose, short upper lip, hypoplastic maxilla, and a relative mandibular prognathism (Reardon et al., 1994; Glaser et al., 2000).
Potocki-Shaffer syndrome
MedGen UID:
318657
Concept ID:
C1832588
Disease or Syndrome
Potocki-Shaffer syndrome is a rare contiguous gene deletion syndrome due to haploinsufficiency of the 11p12-p11.2 region and is characterized by craniofacial abnormalities, developmental delay, intellectual disability, multiple exostoses (168500), and biparietal foramina (609597) (summary by Swarr et al., 2010).
Craniosynostosis and dental anomalies
MedGen UID:
481703
Concept ID:
C3280073
Disease or Syndrome
CRSDA is an autosomal recessive disorder characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen et al., 2011).

Professional guidelines

PubMed

Müller-Hagedorn S, Buchenau W, Arand J, Bacher M, Poets CF
Head Face Med 2017 Mar 30;13(1):4. doi: 10.1186/s13005-017-0137-1. PMID: 28356131Free PMC Article
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Recent clinical studies

Etiology

Raposo-Amaral CE, Ghizoni E, Raposo-Amaral CA
Adv Tech Stand Neurosurg 2023;46:245-266. doi: 10.1007/978-3-031-28202-7_13. PMID: 37318579
W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Polley JW, Figueroa AA, Girotto JA, Dietze-Fiedler ML
J Craniofac Surg 2022 Jan-Feb 01;33(1):270-275. doi: 10.1097/SCS.0000000000008111. PMID: 34967523
Bautista G
Neoreviews 2021 Apr;22(4):e250-e257. doi: 10.1542/neo.22-4-e250. PMID: 33795400
Rogers GF, Greene AK, Proctor MR, Mulliken JB, Goobie SM, Stoler JM
Cleft Palate Craniofac J 2015 Nov;52(6):751-7. Epub 2014 Oct 28 doi: 10.1597/14-092. PMID: 25350344

Diagnosis

Bhattacharjee K, Rehman O, Venkatraman V, Kikkawa D, Bhattacharjee H, Gogoi R, Grewal AM, Bhattacharjee P
Indian J Ophthalmol 2022 Jul;70(7):2346-2354. doi: 10.4103/ijo.IJO_3207_21. PMID: 35791116Free PMC Article
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Wang JC, Nagy L, Demke JC
Facial Plast Surg Clin North Am 2016 Nov;24(4):531-543. doi: 10.1016/j.fsc.2016.06.008. PMID: 27712819
Dicus Brookes C, Golden BA, Turvey TA
Atlas Oral Maxillofac Surg Clin North Am 2014 Sep;22(2):103-10. doi: 10.1016/j.cxom.2014.04.001. PMID: 25171992
Forrest CR, Hopper RA
Plast Reconstr Surg 2013 Jan;131(1):86e-109e. doi: 10.1097/PRS.0b013e318272c12b. PMID: 23271559

Therapy

Dunaway DJ, Budden C, Ong J, James G, Jeelani NUO
Clin Plast Surg 2021 Jul;48(3):507-519. doi: 10.1016/j.cps.2021.03.004. PMID: 34051902
Raposo-Amaral CE, de Oliveira YM, Denadai R, Raposo-Amaral CA, Ghizoni E
Childs Nerv Syst 2021 Jun;37(6):2001-2009. Epub 2021 Apr 18 doi: 10.1007/s00381-021-05169-w. PMID: 33866411
Al-Namnam NMN, Hariri F, Rahman ZAA
Br J Oral Maxillofac Surg 2018 Jun;56(5):353-366. Epub 2018 Apr 13 doi: 10.1016/j.bjoms.2018.03.002. PMID: 29661509
Alshamrani AA, Al-Shahwan S
J Glaucoma 2018 Jun;27(6):e110-e112. doi: 10.1097/IJG.0000000000000946. PMID: 29557836
Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

Prognosis

W Beiriger J, Zhu X, Bruce MK, Irgebay Z, Smetona J, Losee JE, Goldstein JA
Cleft Palate Craniofac J 2023 Oct;60(10):1267-1272. Epub 2022 May 20 doi: 10.1177/10556656221100675. PMID: 35593077
Tonello C, Cevidanes LHS, Ruellas ACO, Alonso N
J Craniofac Surg 2021 Jan-Feb 01;32(1):87-91. doi: 10.1097/SCS.0000000000006997. PMID: 33136785Free PMC Article
Al-Namnam NMN, Hariri F, Rahman ZAA
Br J Oral Maxillofac Surg 2018 Jun;56(5):353-366. Epub 2018 Apr 13 doi: 10.1016/j.bjoms.2018.03.002. PMID: 29661509
Nur BG, Pehlivanoğlu S, Mıhçı E, Calışkan M, Demir D, Alper OM, Kayserili H, Lüleci G
Pediatr Neurol 2014 May;50(5):482-90. Epub 2014 Jan 11 doi: 10.1016/j.pediatrneurol.2014.01.023. PMID: 24656465
Hopper RA
Curr Opin Otolaryngol Head Neck Surg 2012 Aug;20(4):298-303. doi: 10.1097/MOO.0b013e3283543a43. PMID: 22894998

Clinical prediction guides

Singh A, Pajni K, Panigrahi I, Khetarpal P
Curr Pediatr Rev 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. PMID: 35293298
Polley JW, Figueroa AA, Girotto JA, Dietze-Fiedler ML
J Craniofac Surg 2022 Jan-Feb 01;33(1):270-275. doi: 10.1097/SCS.0000000000008111. PMID: 34967523
Poling MI, Dufresne CR, Chamberlain RL
Orphanet J Rare Dis 2019 Jan 10;14(1):14. doi: 10.1186/s13023-018-0984-2. PMID: 30630514Free PMC Article
Merkuri F, Fish JL
Genesis 2019 Jan;57(1):e23249. Epub 2018 Oct 1 doi: 10.1002/dvg.23249. PMID: 30207415Free PMC Article
Cinalli G, Sainte-Rose C, Kollar EM, Zerah M, Brunelle F, Chumas P, Arnaud E, Marchac D, Pierre-Kahn A, Renier D
J Neurosurg 1998 Feb;88(2):209-14. doi: 10.3171/jns.1998.88.2.0209. PMID: 9452225

Recent systematic reviews

Alam MK, Alfawzan AA, Abutayyem H, Kanwal B, Alswairki HJ, Verma S, Ganji KK, Munisekhar MS, Siddiqui AA, Fahim A
Sci Prog 2023 Jan-Mar;106(1):368504231156297. doi: 10.1177/00368504231156297. PMID: 36803068Free PMC Article
Singh A, Pajni K, Panigrahi I, Khetarpal P
Curr Pediatr Rev 2023;19(2):157-168. doi: 10.2174/1573396318666220315142542. PMID: 35293298
Stater BJ, Oomen KP, Modi VK
JAMA Otolaryngol Head Neck Surg 2015 Jan;141(1):73-7. doi: 10.1001/jamaoto.2014.2790. PMID: 25375853
Pluijmers BI, Caron CJ, Dunaway DJ, Wolvius EB, Koudstaal MJ
Int J Oral Maxillofac Surg 2014 Mar;43(3):286-95. Epub 2013 Dec 12 doi: 10.1016/j.ijom.2013.11.001. PMID: 24332589
Dunaway DJ, Britto JA, Abela C, Evans RD, Jeelani NU
Childs Nerv Syst 2012 Sep;28(9):1571-6. Epub 2012 Aug 8 doi: 10.1007/s00381-012-1804-y. PMID: 22872275

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