Crouzon syndrome - acanthosis nigricans

General Information (adopted from Orphanet):

Synonyms, Signs: CROUZONODERMOSKELETAL SYNDROME
CAN
Crouzono-dermoskeletal syndrome
Number of Symptoms 30
OrphanetNr: 93262
OMIM Id: 612247
ICD-10: Q75.1
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal dominant
Not applicable
[Orphanet]
Age of onset: Neonatal
[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:0000316) Hypertelorism Frequent [Orphanet] 644 / 7739
2
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
3
 (HPO:0000348) High forehead Very frequent [Orphanet] 157 / 7739
4
 (HPO:0000262) Turricephaly Frequent [Orphanet] 38 / 7739
5
 (HPO:0011800) Midface retrusion Frequent [Orphanet] 221 / 7739
6
 (HPO:0000453) Choanal atresia Frequent [Orphanet] 76 / 7739
7
 (HPO:0001363) Craniosynostosis 132 / 7739
8
 (HPO:0000444) Convex nasal ridge Occasional [Orphanet] 87 / 7739
9
 (HPO:0000327) Hypoplasia of the maxilla Frequent [Orphanet] 129 / 7739
10
 (HPO:0000248) Brachycephaly Frequent [Orphanet] 222 / 7739
11
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
12
 (HPO:0000520) Proptosis Frequent [Orphanet] 192 / 7739
13
 (HPO:0100533) Inflammatory abnormality of the eye Frequent [Orphanet] 70 / 7739
14
 (HPO:0000572) Visual loss Occasional [Orphanet] 272 / 7739
15
 (HPO:0000486) Strabismus Frequent [Orphanet] 576 / 7739
16
 (HPO:0000508) Ptosis Frequent [Orphanet] 459 / 7739
17
 (HPO:0000405) Conductive hearing impairment Frequent [Orphanet] 164 / 7739
18
 (HPO:0002315) Headache Occasional [Orphanet] 175 / 7739
19
 (HPO:0002516) Increased intracranial pressure Frequent [Orphanet] 47 / 7739
20
 (HPO:0005107) Abnormality of the sacrum Occasional [Orphanet] 18 / 7739
21
 (HPO:0001163) Abnormality of the metacarpal bones Frequent [Orphanet] 149 / 7739
22
 (HPO:0003312) Abnormal form of the vertebral bodies Frequent [Orphanet] 172 / 7739
23
 (HPO:0004279) Short palm Frequent [Orphanet] 323 / 7739
24
 (HPO:0000995) Melanocytic nevus 63 / 7739
25
 (HPO:0000956) Acanthosis nigricans Very frequent [Orphanet] 54 / 7739
26
 (HPO:0002093) Respiratory insufficiency Occasional [Orphanet] 410 / 7739
27
 (HPO:0002308) Arnold-Chiari malformation Frequent [Orphanet] 42 / 7739
28
 (HPO:0000238) Hydrocephalus Frequent [Orphanet] rare [HPO:skoehler] 278 / 7739
29
 (HPO:0002334) Abnormality of the cerebellar vermis Frequent [Orphanet] 137 / 7739
30
 (HPO:0012795) Abnormality of the optic disc Occasional [Orphanet] 187 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Crouzon syndrome with acanthosis nigricans is considered to be a distinct disorder from classic Crouzon syndrome (123500), which is caused by mutation in the FGFR2 gene (176943). Cohen (1999) argued that this condition is separate from Crouzon syndrome ...
Clinical Description OMIM Breitbart et al. (1989) reported 6 patients with Crouzon syndrome and acanthosis nigricans and discussed the ramifications for the craniofacial surgeon. The authors noted that surgical sites within the areas affected by acanthosis nigricans often demonstrated marked hypopigmentation. ...
Molecular genetics OMIM In 4 patients with Crouzon syndrome with acanthosis nigricans, Meyers et al. (1995) identified the same heterozygous A391E mutation in the FGFR3 gene. This mutation was not present in 16 unrelated Crouzon syndrome patients with FGFR2 mutations, 13 ...