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Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 13

Pfeiffer syndrome type 3

1 associated gene
39 signs/symptoms

Crouzon disease

Pfeiffer syndrome type 3

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Crouzon disease		Pfeiffer syndrome type 3
	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 eye disease - 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: No OMIM references No MeSH references


COMMON SIGNS	- Arnold-Chiari anomaly - Autosomal dominant inheritance - Brachycephaly / flat occiput - Choanal atresia - Cranial hypertension - External auditory canal atresia / stenosis / agenesis - Hearing loss / hypoacusia / deafness - High forehead - High vaulted / narrow palate - Hypertelorism - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Turricephaly / oxycephaly / acrocephaly - Visual loss / blindness / amblyopia

Crouzon disease		Pfeiffer syndrome type 3
	Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial dysmorphism - Frontal bossing / prominent forehead - Skull / cranial anomalies Frequent - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Ptosis - Strabismus / squint Occasional - Acanthosis nigricans - Beaked nose - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Coloboma of iris - Facial pain / cephalalgia / migraine - Hydrocephaly - Irregular / patchy skin hypopigmentation - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Pigmented naevi / naevus pigmentosus / lentigo - Sacro-coccyx / sacrum anomaly		Very frequent - Broad / bifid big toe - Broad / bifid thumb - Depressed nasal bridge - Laryngomalacia - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Restricted joint mobility / joint stiffness / ankylosis - Short big toe - Short / small nose - Stenosis of aqueduc of Sylvius - Thumb hypoplasia / aplasia / absence - Tracheomalacia / tracheobronchomalacia Frequent - Early death / lethality - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Seizures / epilepsy / absences / spasms / status epilepticus - Short foot / brachydactyly of toes - Short hand / brachydactyly - Syndactyly of fingers / interdigital palm - Syndactyly of toes Occasional - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Ectopic / horseshoe / fused kidneys - Imperforate anus / rectum atresia / agenesis / recto-vaginal / vesical / perineal fistula - Intestinal / gut / bowel malrotation - Megaureter / hydronephrosis / pyeloureteral junction syndrome - Vesicorenal / vesicoureteral reflux