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Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Antley-Bixler syndrome

1 OMIM reference -
1 associated gene
30 signs/symptoms

Crouzon disease

Antley-Bixler syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Crouzon disease		Antley-Bixler syndrome
	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: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537780


COMMON SIGNS	- Brachycephaly / flat occiput - Choanal atresia - Craniostenosis / craniosynostosis / sutural synostosis - Frontal bossing / prominent forehead - Hypertelorism - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly

Crouzon disease		Antley-Bixler syndrome
	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 - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Ptosis Occasional - Acanthosis nigricans - Beaked nose - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - External auditory canal atresia / stenosis / agenesis - Facial pain / cephalalgia / migraine - Hearing loss / hypoacusia / deafness - High vaulted / narrow palate - Hydrocephaly - 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 - Anteverted nares / nostrils - Autosomal recessive inheritance - Camptodactyly of fingers - Congenital cardiac anomaly / malformation / cardiopathy - Femur anomaly / absence / agenesis / hypoplasia / bifurcation - Flat cheek bones / malar hypoplasia - Humeroradial fusion - Long hand / arachnodactyly - Low set ears / posteriorly rotated ears - Narrow rib cage / thorax - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Restricted joint mobility / joint stiffness / ankylosis - Rib structure anomalies - Short / small nose Frequent - Proptosis / exophthalmos - Structural anomalies of the kidney and the urinary tract Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Flat supraorbital ridge - Long philtrum - Microstomia / little mouth - Mutiple fractures / bone fragility - Talipes-varus / metatarsal varus