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Saethre-Chotzen syndrome

1 OMIM reference -
3 associated genes
38 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Thanatophoric dysplasia type 2

2 OMIM references -
1 associated gene
36 signs/symptoms

Saethre-Chotzen syndrome

Thanatophoric dysplasia type 2

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


COMMON GENES	FGFR3

Citations in the biomedical literature:

Saethre-Chotzen syndrome		Thanatophoric dysplasia type 2
	Synonym(s): - ACS3 - Acrocephalosyndactyly type 3 - SCS		Synonym(s): - Cloverleaf skull - micromelic bone dysplasia - TD2 - Thanatophoric dwarfism - cloverleaf skull - Thanatophoric dwarfism type 2

	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: autosomal dominant

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


COMMON SIGNS	- Autosomal dominant inheritance - Hearing loss / hypoacusia / deafness - Intellectual deficit / mental / psychomotor retardation / learning disability - Seizures / epilepsy / absences / spasms / status epilepticus - Short hand / brachydactyly - Short stature / dwarfism / nanism

Saethre-Chotzen syndrome		Thanatophoric dysplasia type 2
	Very frequent - 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 - 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 - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Low set ears / posteriorly rotated ears - Optic nerve anomaly / optic atrophy / anomaly of the papilla - Radioulnar synostosis - Scoliosis - Sensorineural deafness / hearing loss - Undescended / ectopic testes / cryptorchidia / unfixed testes - Visual loss / blindness / amblyopia		Very frequent - Cloverleaf skull - Depressed nasal bridge - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Flat face - Hypoplastic lungs / pulmonary hypoplasia / agenesis - Hypotonia - Loose skin / skin relaxation / excess skin / creases - Macrocephaly / macrocrania / megalocephaly / megacephaly - Metaphyseal anomaly - Narrow rib cage / thorax - Platyspondyly - Respiratory distress / dyspnea / respiratory failure / lung volume reduction - Rhizomelic micromelia - Short rib cage / thorax - Stillbirth / neonatal death Frequent - Dilated cerebral ventricles without hydrocephaly - Frontal bossing / prominent forehead - Increased nuchal translucency - Kyphosis - Polyhydramnios - Proptosis / exophthalmos Occasional - Acanthosis nigricans - Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect - Atrial septal defect / interauricular communication - Encephalocele / exencephaly - Holoprosencephaly / arhinencephaly / unique lateral ventricle - Hydrocephaly - Patent ductus arteriosus - Renal / kidney anomalies - Restricted joint mobility / joint stiffness / ankylosis