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Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 16

1 OMIM reference -
1 associated gene
45 signs/symptoms

Crouzon disease

Apert syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Crouzon disease		Apert syndrome
	Synonym(s): - Crouzon craniofacial dysostosis		Synonym(s): - ACS1 - Acrocephalosyndactyly type 1

	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 eye disease - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic 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: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: D000168


COMMON SIGNS	- Arnold-Chiari anomaly - Autosomal dominant inheritance - Beaked nose - Brachycephaly / flat occiput - Choanal atresia - Conductive deafness / hearing loss - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hydrocephaly - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly - Visual loss / blindness / amblyopia

Crouzon disease		Apert syndrome
	Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial dysmorphism - High forehead - Skull / cranial anomalies Frequent - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cranial hypertension - Ptosis Occasional - Acanthosis nigricans - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - External auditory canal atresia / stenosis / agenesis - Facial pain / cephalalgia / migraine - Hearing loss / hypoacusia / deafness - Irregular / patchy skin hypopigmentation - Pigmented naevi / naevus pigmentosus / lentigo - Sacro-coccyx / sacrum anomaly		Very frequent - Depressed nasal bridge - Flat face - Proptosis / exophthalmos - Syndactyly of fingers / interdigital palm - Syndactyly of toes Frequent - Broad / bifid thumb - Chronic arterial hypertension - Corpus callosum / septum pellucidum total / partial agenesis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Depressed premaxillary region / midface - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Failure to thrive / difficulties for feeding in infancy / growth delay - Intellectual deficit / mental / psychomotor retardation / learning disability - Large fontanelle / delayed fontanelle closure - Prognathism / prognathia - Structural anomalies of inner ear / cochlea / vestible / semicircular canals - Thumb hypoplasia / aplasia / absence - Vertebral segmentation anomaly / hemivertebrae Occasional - Anus ectopia / anteposition / malposition - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Cloverleaf skull - Congenital cardiac anomaly / malformation / cardiopathy - Corneal ulceration / perforation - Dilated cerebral ventricles without hydrocephaly - Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia - Ovary / ovarian teratoma / germinoma - Rhizomelic micromelia - Sensorineural deafness / hearing loss