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Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

PROTEIN INTERACTIONS: 1

Isolated cloverleaf skull syndrome

2 OMIM references -
2 associated genes
14 signs/symptoms

Monomelic amyotrophy

Isolated cloverleaf skull syndrome

C5ORF42	(UniProt - OMIM)		ERF	(UniProt - OMIM)
KIAA1377	(UniProt - OMIM)		FGFR3	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	KIAA1377	(0.63)	FGFR3

Citations in the biomedical literature:

Monomelic amyotrophy		Isolated cloverleaf skull syndrome
	Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb		Synonym(s): - Kleeblattschaedel syndrome

	Classification (Orphanet): (no data available)		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease

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

	Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown		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 - 1 MeSH reference: C538253		External references: 2 OMIM references - No MeSH references

Monomelic amyotrophy		Isolated cloverleaf skull syndrome
	Very frequent - Abnormal EMG / electromyogram / electropmyography - Muscle hypotrophy / atrophy / dystrophy / agenesis / amyotrophy - Muscle weakness / flaccidity - Upper limb asymmetry / hemiatrophy / hemihypertrophy - Upper limb segmental anomalies Frequent - Acrocyanosis / Raynaud's phenomenon / vasomotor disorders - Anomalies of spine, vertebrae and pelvis - Autosomal recessive inheritance - Nerve conduction abnormality Occasional - Anomalies of the immunitary system - Movement disorder - Myoclonus / fasciculations - Tremor		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