ODCs

Click node...

2 OMIM references -
2 associated genes
14 signs/symptoms

PROTEIN INTERACTIONS: 1

1 OMIM reference -
3 associated genes
No signs/symptoms info

Isolated cloverleaf skull syndrome

Hypercalcemic tumoral calcinosis


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	FGFR3	(0.52)	FGF23

Citations in the biomedical literature:

Isolated cloverleaf skull syndrome		Hypercalcemic tumoral calcinosis
	Synonym(s): - Kleeblattschaedel syndrome		Synonym(s): - GALNT3-CDG

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		Classification (Orphanet): - Inborn errors of metabolism - Rare endocrine disease - Rare genetic disease - Rare oncologic disease - Rare skin disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Diseases of the musculoskeletal system and connective tissue -

	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: - Average age onset: - Average age of death: - Type of inheritance: autosomal recessive

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

Isolated cloverleaf skull syndrome
	Very frequent - Autosomal dominant inheritance - Beaked nose - Depressed premaxillary region / midface - High forehead - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - 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
Hypercalcemic tumoral calcinosis
(no data available)