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Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 9

Jackson-Weiss syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Crouzon disease

Jackson-Weiss syndrome

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Crouzon disease		Jackson-Weiss syndrome
	Synonym(s): - Crouzon craniofacial dysostosis		Synonym(s): - Craniosynostosis - midfacial hypoplasia - foot abnormalities - JWS

	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 dominant

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537559


COMMON SIGNS	- Autosomal dominant inheritance - Beaked nose - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Ptosis - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly

Crouzon disease		Jackson-Weiss syndrome
	Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial dysmorphism - High forehead - Skull / cranial anomalies Frequent - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension Occasional - Acanthosis nigricans - 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 - 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 - Broad / bifid big toe - Mid-facial hypoplasia / short / small midface - Syndactyly of toes - Tarsal anomaly / fusion / synostosis Frequent - Flat supraorbital ridge - Prognathism / prognathia - Proptosis / exophthalmos Occasional - Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly - Oligodactyly / ectrodactyly of toes - Preaxial polydactyly of toes / big toe duplication - Symphalangy of fingers - Syndactyly of fingers / interdigital palm