ORPHA:207

Crouzon syndrome

Synonyms: Crouzon craniofacial dysostosis

Crouzon disease is characterized by craniosynostosis and facial hypoplasia.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Crouzon syndrome	Crouzon craniofacial dysostosis
fr	Syndrome de Crouzon	Dysostose craniofaciale de Crouzon
de	Crouzon-Syndrom	Dysostose, kraniofaziale, Typ Crouzon · Dysostosis Craniofacialis Crouzon
es	Síndrome de Crouzon	Disostosis craneofacial de Crouzon
it	Malattia di Crouzon	Disostosi craniofacciale di Crouzon
nl	Syndroom van Crouzon	Craniofaciale dysostose van Crouzon
pt	Síndrome Crouzon	Disostose cranio-facial Crouzon · Doença de Crouzon
pl	Choroba Crouzona	Dyzostoza czaszkowo-twarzowa Crouzona · Zespół Crouzona
cs	Crouzonův syndrom	Crouzonova kraniofaciální dysostóza
uk	Синдром Крузона	Краніофаціальний дизостоз Крузона
zh	遗传性家族性颅面骨畸形	Crouzon颅面骨骨发育不良
tr	Crouzon hastalığı	Crouzon kraniyofasiyal disostoz

Definition in:

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	123500	E		validated
ICD-10	Q75.1	NTBT	inclusion	validated
ICD-11	LD24.G1	E	specific	validated
MONDO	0007405	E		validated
UMLS	C0010273	E		validated
GARD	6206	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Preferential parent (Orphanet linearisation):

Parents in the classifications (3):

ORPHA:98650Craniofacial anomaly with cataract
rare genetic diseases; rare ophthalmic disorders
ORPHA:98684Craniostenosis with strabismus
rare genetic diseases; rare ophthalmic disorders
ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

No children.

1 direct

Gene	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
FGFR2	Disease-causing germline mutation(s) (gain of function) in	Assessed	HGNC:3689	ENSG00000066468	176943	10q26.13	fibroblast growth factor receptor 2	20301628[PMID]

4 records

Type	Class	Value	Area	Qualification	Validation	Source
Prevalence at birth	1-9 / 1 000 000	0.9 / 100 000	Europe	Value and class	Validated	EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]
Point prevalence	1-9 / 1 000 000	—	Europe	Class only	Validated	ORPHANET_EUROCAT European surveillance of congenital anomalies 2005-2012[OTHER]
Point prevalence	1-9 / 100 000	1.65 / 100 000	Canada	Value and class	Validated	1633640[PMID]
Prevalence at birth	1-9 / 100 000	2.6 / 100 000	Australia	Value and class	Validated	34626670[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

33 annotations · validated 2016-06-01

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0001999	Abnormal facial shape
HP:0000929	Abnormal skull morphology
HP:0002007	Frontal bossing
HP:0000348	High forehead
HP:0011324	Multiple suture craniosynostosis
Frequent (79-30%)
HP:0000248	Brachycephaly
HP:0001321	Cerebellar hypoplasia
HP:0002308	Chiari malformation
HP:0000405	Conductive hearing impairment
HP:0000509	Conjunctivitis
HP:0000316	Hypertelorism
HP:0000327	Hypoplasia of the maxilla
HP:0002516	Increased intracranial pressure
HP:0011800	Midface retrusion
HP:0000520	Proptosis
HP:0000508	Ptosis
HP:0000486	Strabismus
HP:0000262	Turricephaly
Occasional (29-5%)
HP:0005107	Abnormal sacrum morphology
HP:0000956	Acanthosis nigricans
HP:0000646	Amblyopia
HP:0000453	Choanal atresia
HP:0000444	Convex nasal ridge
HP:0002315	Headache
HP:0000365	Hearing impairment
HP:0000238	Hydrocephalus
HP:0001053	Hypopigmented skin patches
HP:0000612	Iris coloboma
HP:0000995	Melanocytic nevus
HP:0011386	Narrow internal auditory canal
HP:0000189	Narrow palate
HP:0000648	Optic atrophy
HP:0002093	Respiratory insufficiency