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Isolated cloverleaf skull syndrome

2 OMIM references -
2 associated genes
14 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 4

Muenke syndrome

1 OMIM reference -
1 associated gene
18 signs/symptoms

Isolated cloverleaf skull syndrome

Muenke syndrome

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Isolated cloverleaf skull syndrome		Muenke syndrome
	Synonym(s): - Kleeblattschaedel syndrome		Synonym(s): (no synonyms)

	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: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: before age 5 Type of inheritance: sporadic		Epidemiological data: Class of prevalence: unknown Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal dominant

	External references: 2 OMIM references - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C537369


COMMON SIGNS	- Autosomal dominant inheritance - Intellectual deficit / mental / psychomotor retardation / learning disability - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos

Isolated cloverleaf skull syndrome		Muenke syndrome
	Very frequent - Beaked nose - Depressed premaxillary region / midface - High forehead - Low set ears / posteriorly rotated ears - Stillbirth / neonatal death Frequent - Abnormal vertebral size / shape - Craniostenosis / craniosynostosis / sutural synostosis - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Restricted joint mobility / joint stiffness / ankylosis - Syndactyly of fingers / interdigital palm		Frequent - Brachycephaly / flat occiput - Carpal bones fusion / synostosis - Cone epiphyses / epiphysis - Cranial hypertension - High vaulted / narrow palate - Hypertelorism - Plagiocephaly - Ptosis - Sensorineural deafness / hearing loss - Short foot / brachydactyly of toes - Short hand / brachydactyly - Tarsal anomaly / fusion / synostosis Occasional - Hydrocephaly - Macrocephaly / macrocrania / megalocephaly / megacephaly