ODCs

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Familial scaphocephaly syndrome, McGillivray type

1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 5

Crouzon disease

1 OMIM reference -
2 associated genes
32 signs/symptoms

Familial scaphocephaly syndrome, McGillivray type

Crouzon disease

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


COMMON GENES	FGFR2

Citations in the biomedical literature:

Familial scaphocephaly syndrome, McGillivray type		Crouzon disease
	Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit		Synonym(s): - Crouzon craniofacial dysostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - 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 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant		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

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


COMMON SIGNS	- Autosomal dominant inheritance - High forehead - High vaulted / narrow palate - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia

Familial scaphocephaly syndrome, McGillivray type		Crouzon disease
	Very frequent - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dental malocclusion - Dolichocephaly / scaphocephaly - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface Occasional - Broad / bifid big toe - Dilated cerebral ventricles without hydrocephaly - Prognathism / prognathia - Syndactyly of toes - Trigonocephaly - Upslanted palpebral fissures / mongoloid slanting palpebral fissures		Very frequent - Craniostenosis / craniosynostosis / sutural synostosis - Facial dysmorphism - Frontal bossing / prominent forehead - Skull / cranial anomalies Frequent - Arnold-Chiari anomaly - Brachycephaly / flat occiput - Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis - Conductive deafness / hearing loss - Cranial hypertension - Ptosis - Strabismus / squint - Turricephaly / oxycephaly / acrocephaly Occasional - Acanthosis nigricans - Beaked nose - 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