ODCs

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1 OMIM reference -
1 associated gene
No signs/symptoms info

COMMON GENES: 1

1 OMIM reference -
1 associated gene
16 signs/symptoms

FGFR2-related bent bone dysplasia

Familial scaphocephaly syndrome, McGillivray type

Citations in the biomedical literature:

FGFR2-related bent bone dysplasia		Familial scaphocephaly syndrome, McGillivray type
	Synonym(s): - Perinatal lethal bent bone dysplasia		Synonym(s): - Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

	Classification (ICD10): (no data available)		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: 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

Familial scaphocephaly syndrome, McGillivray type
	Very frequent - Autosomal dominant inheritance - High forehead - Hypertelorism - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Macrocephaly / macrocrania / megalocephaly / megacephaly Frequent - Dental malocclusion - Dolichocephaly / scaphocephaly - High vaulted / narrow palate - 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
FGFR2-related bent bone dysplasia
(no data available)