ODCs

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1 OMIM reference -
1 associated gene
16 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 2

2 OMIM references -
2 associated genes
14 signs/symptoms

Familial lambdoid synostosis

Isolated cloverleaf skull syndrome

ERF	(UniProt - OMIM)		ERF	(UniProt - OMIM)
			FGFR3	(UniProt - OMIM)

Citations in the biomedical literature:

Familial lambdoid synostosis		Isolated cloverleaf skull syndrome
	Synonym(s): (no synonyms)		Synonym(s): - Kleeblattschaedel syndrome

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

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: sporadic

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - No MeSH references


COMMON SIGNS	- Craniostenosis / craniosynostosis / sutural synostosis - Intellectual deficit / mental / psychomotor retardation / learning disability

Familial lambdoid synostosis		Isolated cloverleaf skull syndrome
	Very frequent - Brachycephaly / flat occiput - Plagiocephaly Frequent - External ear anomalies - Frontal bossing / prominent forehead - Hypotonia Occasional - Blepharophimosis / short palpebral fissures - Downturned mouth - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Grooved / dimple chin - Hydrocephaly - Hypertonia / spasticity / rigidity / stiffness - Prominent / bat ears - Round ear - Telecanthus / canthal dystopy		Very frequent - Autosomal dominant inheritance - Beaked nose - Depressed premaxillary region / midface - High forehead - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Stillbirth / neonatal death Frequent - Abnormal vertebral size / shape - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm