ODCs

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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 7

Isolated cloverleaf skull syndrome

2 OMIM references -
2 associated genes
14 signs/symptoms

Saethre-Chotzen syndrome

Isolated cloverleaf skull syndrome

FGFR2	(UniProt - OMIM)	ERF	(UniProt - OMIM)
FGFR3	(UniProt - OMIM)	FGFR3	(UniProt - OMIM)
TWIST1	(UniProt - OMIM)


COMMON GENES	FGFR3

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Isolated cloverleaf skull syndrome
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): - Kleeblattschaedel syndrome

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare eye disease - Rare genetic disease - Rare oncologic 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: 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: 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	- Abnormal vertebral size / shape - Autosomal dominant inheritance - Beaked nose - Craniostenosis / craniosynostosis / sutural synostosis - Intellectual deficit / mental / psychomotor retardation / learning disability - Low set ears / posteriorly rotated ears - Syndactyly of fingers / interdigital palm

Saethre-Chotzen syndrome		Isolated cloverleaf skull syndrome
	Very frequent - Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy - Skull / cranial anomalies Frequent - 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 - 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 - 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 - Depressed premaxillary region / midface - High forehead - Mid-facial hypoplasia / short / small midface - Proptosis / exophthalmos - Stillbirth / neonatal death Frequent - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Restricted joint mobility / joint stiffness / ankylosis