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Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Familial lambdoid synostosis

1 OMIM reference -
1 associated gene
16 signs/symptoms

Crouzon disease

Familial lambdoid synostosis

ERF	(UniProt - OMIM)		ERF	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)


COMMON GENES	ERF

Citations in the biomedical literature:

Crouzon disease		Familial lambdoid synostosis
	Synonym(s): - Crouzon craniofacial dysostosis		Synonym(s): (no synonyms)

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: (no data available)

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - No MeSH references


COMMON SIGNS	- Brachycephaly / flat occiput - Craniostenosis / craniosynostosis / sutural synostosis - Frontal bossing / prominent forehead - Hydrocephaly

Crouzon disease		Familial lambdoid synostosis
	Very frequent - Autosomal dominant inheritance - Facial dysmorphism - High forehead - Skull / cranial anomalies Frequent - Arnold-Chiari anomaly - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Ptosis - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Acanthosis nigricans - Beaked nose - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Coloboma of iris - External auditory canal atresia / stenosis / agenesis - Facial pain / cephalalgia / migraine - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Irregular / patchy skin hypopigmentation - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pigmented naevi / naevus pigmentosus / lentigo - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		Very frequent - Plagiocephaly Frequent - External ear anomalies - Hypotonia Occasional - Blepharophimosis / short palpebral fissures - Downturned mouth - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Grooved / dimple chin - Hypertonia / spasticity / rigidity / stiffness - Intellectual deficit / mental / psychomotor retardation / learning disability - Prominent / bat ears - Round ear - Telecanthus / canthal dystopy