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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

PROTEIN INTERACTIONS: 1

Monomelic amyotrophy

1 OMIM reference -
2 associated genes
13 signs/symptoms

Saethre-Chotzen syndrome

Monomelic amyotrophy

FGFR2	(UniProt - OMIM)		C5ORF42	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)		KIAA1377	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


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

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Monomelic amyotrophy
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): - Benign focal amyotrophy - Hirayama disease - JMADUE - Juvenile muscular atrophy of distal upper extremity - Juvenile muscular atrophy of the distal upper limb

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

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

	Epidemiological data: Class of prevalence: 1-9 / 100 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant		Epidemiological data: Class of prevalence: unknown Average age onset: adolescence / young Average age of death: normal Type of inheritance: unknown

	External references: 1 OMIM reference - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C538253

Saethre-Chotzen syndrome		Monomelic amyotrophy
	Very frequent - Autosomal dominant inheritance - Craniostenosis / craniosynostosis / sutural synostosis - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Skull / cranial anomalies - Syndactyly of fingers / interdigital palm Frequent - Beaked nose - Dystonia / torticollis / writer's cramp / blepharospasms - External auditory canal atresia / stenosis / agenesis - External ear anomalies - Helix / crux helix absent / abnormal / adherent / crux cymbae / posterior helix pits - Hypertelorism - Low hair line-front - Microtia / cryptomicrotia / anotia / external auditory canal / pinnae aplasia / hypoplasia - Ptosis - Short hand / brachydactyly - Simian crease / transverse / unique palmar crease - Strabismus / squint Occasional - Abnormal vertebral size / shape - Apnea / sleep apnea - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Conductive deafness / hearing loss - Congenital cardiac anomaly / malformation / cardiopathy - Cranial hypertension - Early death / lethality - Facial pain / cephalalgia / migraine - Hallux valgus - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Radioulnar synostosis - Scoliosis - Seizures / epilepsy / absences / spasms / status epilepticus - Sensorineural deafness / hearing loss - Short stature / dwarfism / nanism - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia		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