ODCs

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1 OMIM reference -
1 associated gene
29 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

3 OMIM references -
3 associated genes
10 signs/symptoms

Crouzon syndrome - acanthosis nigricans

Multiple synostoses syndrome


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.88)	FGF9

Citations in the biomedical literature:

Crouzon syndrome - acanthosis nigricans		Multiple synostoses syndrome
	Synonym(s): - Crouzono-dermoskeletal syndrome		Synonym(s): - Deafness - symphalangism syndrome, Hermann type - Facio-audio-symphalangism - Symphalangism - brachydactyly - WL 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 otorhinolaryngologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: childhood Average age of death: - Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 3 OMIM references - No MeSH references


COMMON SIGNS	- Autosomal dominant inheritance - Conductive deafness / hearing loss - Short hand / brachydactyly

Crouzon syndrome - acanthosis nigricans		Multiple synostoses syndrome
	Very frequent - Acanthosis nigricans - Frontal bossing / prominent forehead - High forehead Frequent - Abnormal vertebral size / shape - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Choanal atresia - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Cranial hypertension - Hydrocephaly - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Metacarpal anomalies / Archibald's sign - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Ptosis - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Beaked nose - Facial pain / cephalalgia / migraine - High vaulted / narrow palate - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Sacro-coccyx / sacrum anomaly - Visual loss / blindness / amblyopia		Very frequent - Restricted joint mobility / joint stiffness / ankylosis - Symphalangy of fingers Frequent - Broad / bifid thumb - Cone epiphyses / epiphysis - Simian crease / transverse / unique palmar crease Occasional - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Nails anomalies