ODCs

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Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 13

Cutis gyrata - acanthosis nigricans - craniosynostosis

1 OMIM reference -
2 associated genes
42 signs/symptoms

Crouzon disease

Cutis gyrata - acanthosis nigricans - craniosynostosis

ERF	(UniProt - OMIM)		FGFR2	(UniProt - OMIM)
FGFR2	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)


COMMON GENES	FGFR2

Citations in the biomedical literature:

Crouzon disease		Cutis gyrata - acanthosis nigricans - craniosynostosis
	Synonym(s): - Crouzon craniofacial dysostosis		Synonym(s): - Beare-Stevenson cutis gyrata syndrome

	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 - Rare skin 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 dominant

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


COMMON SIGNS	- Acanthosis nigricans - Autosomal dominant inheritance - Choanal atresia - Craniostenosis / craniosynostosis / sutural synostosis - High vaulted / narrow palate - Hydrocephaly - Hypertelorism - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pigmented naevi / naevus pigmentosus / lentigo - Ptosis - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Skull / cranial anomalies - Turricephaly / oxycephaly / acrocephaly

Crouzon disease		Cutis gyrata - acanthosis nigricans - craniosynostosis
	Very frequent - Facial dysmorphism - Frontal bossing / prominent forehead - High forehead Frequent - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Strabismus / squint Occasional - 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 - Irregular / patchy skin hypopigmentation - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		Very frequent - Anodontia / oligodontia / hypodontia - Anomalies of ear and hearing - Anomalies of skin, subcutaneous tissue and mucosae - Depressed nasal bridge - Depressed premaxillary region / midface - Dolichocephaly / scaphocephaly - Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures - Face / facial anomalies - Flat cheek bones / malar hypoplasia - Long / large ear - Mid-facial hypoplasia / short / small midface - Palmoplantar hyperkeratosis / keratoderma - Proptosis / exophthalmos - Small / hypoplastic / adherent / absent ear lobe - Structural anomalies of the pancreas - Subcutaneous nodules / lipomas / tumefaction / swelling - Visceral angiomatosis (excluding skin) Frequent - Bifid scrotum - Horizontal folds on scrotum Occasional - Anomalies of eyes and vision - Anteverted nares / nostrils - Anus ectopia / anteposition / malposition - Chronic arterial hypertension - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Helix thickened / sculpted - Microstomia / little mouth - Nails anomalies - Umbilical hernia - Undescended / ectopic testes / cryptorchidia / unfixed testes