Crouzon disease

General Information (adopted from Orphanet):

Synonyms, Signs: CRANIOFACIAL DYSOSTOSIS, TYPE I
CFD1
crouzon craniofacial dysostosis
Number of Symptoms 55
OrphanetNr: 207
OMIM Id: 123500
ICD-10: Q75.1
UMLs:
MeSH:
MedDRA:
Snomed: 28861008

Prevalence, inheritance and age of onset:

Prevalence: 0.9 of 100 000 [Orphanet]
Inheritance: Autosomal dominant
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Craniostenosis associated with a strabismus
 -Rare eye disease
 -Rare genetic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000453) Choanal atresia Occasional [Orphanet] 76 / 7739
2
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
3
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
4
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
5
 (HPO:0000929) Abnormality of the skull Very frequent [Orphanet] 53 / 7739
6
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
7
 (HPO:0001999) Abnormal facial shape Very frequent [Orphanet] 169 / 7739
8
 (HPO:0004443) Lambdoidal craniosynostosis 15 / 7739
9
 (HPO:0004439) Craniofacial dysostosis 3 / 7739
10
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
11
 (HPO:0011324) Multiple suture craniosynostosis 22 / 7739
12
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
13
 (HPO:0000520) Proptosis 192 / 7739
14
 (HPO:0001739) Abnormality of the nasopharynx 16 / 7739
15
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
16
 (HPO:0000303) Mandibular prognathia 179 / 7739
17
 (HPO:0000586) Shallow orbits 23 / 7739
18
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
19
 (HPO:0001363) Craniosynostosis Very frequent [Orphanet] 132 / 7739
20
 (HPO:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
21
 (HPO:0000678) Dental crowding 65 / 7739
22
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
23
 (HPO:0000509) Conjunctivitis 47 / 7739
24
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
25
 (HPO:0000612) Iris coloboma Occasional [Orphanet] 116 / 7739
26
 (HPO:0000648) Optic atrophy 238 / 7739
27
 (HPO:0000505) Visual impairment 297 / 7739
28
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
29
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
30
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
31
 (HPO:0000413) Atresia of the external auditory canal 32 / 7739
32
 (HPO:0000365) Hearing impairment Occasional [Orphanet] 539 / 7739
33
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
34
 (HPO:0000372) Abnormality of the auditory canal Occasional [Orphanet] 49 / 7739
35
 (HPO:0001250) Seizures 1245 / 7739
36
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
37
 (HPO:0010535) Sleep apnea 24 / 7739
38
 (HPO:0002516) Increased intracranial pressure Frequent [Orphanet] 47 / 7739
39
 (HPO:0001249) Intellectual disability Occasional [HPO:skoehler] 1089 / 7739
40
 (HPO:0003319) Abnormality of the cervical spine 6 / 7739
41
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
42
 (HPO:0000995) Melanocytic nevus Occasional [Orphanet] 63 / 7739
43
 (HPO:0000956) Acanthosis nigricans Occasional [Orphanet] 54 / 7739
44
 (HPO:0001053) Hypopigmented skin patches Occasional [Orphanet] 80 / 7739
45
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
46
 (OMIM) Mental retardation, occasional 3 / 7739
47
 (OMIM) Parrot-like nose 1 / 7739
48
 (HPO:0002308) Arnold-Chiari malformation Frequent [Orphanet] 42 / 7739
49
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739
50
 (OMIM) Lateral palatal swellings 1 / 7739
51
 (HPO:0000238) Hydrocephalus Occasional [Orphanet] 278 / 7739
52
 (OMIM) Exposure conjunctivitis/keratitis 1 / 7739
53
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
54
 (OMIM) Calcification of stylohyoid ligament 1 / 7739
55
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Crouzon (1912) first described this syndrome in a family.

Shiller (1959) observed autosomal dominant transmission of Crouzon craniofacial dysostosis in 23 family members spanning 4 generations. There was marked variability in both cranial and facial manifestations. ...
Molecular genetics OMIM Reardon et al. (1994) identified mutations in the FGFR2 gene (see, e.g., 176943.0001-176943.0006) in 9 of 20 patients with Crouzon syndrome. Because no evidence of genetic heterogeneity on the basis of linkage studies had been found, Reardon et ...
Population genetics OMIM Cohen and Kreiborg (1992) estimated that Crouzon syndrome represents approximately 4.8% of cases of craniosynostosis at birth. The birth prevalence was estimated to be 16.5 per million births.