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Saethre-Chotzen syndrome
1 OMIM reference -
3 associated genes
91 connected diseases
38 signs/symptoms
Disease Type of connection
Lacrimo-auriculo-dento-digital syndrome
Cutis gyrata - acanthosis nigricans - craniosynostosis
Isolated brachycephaly
Giant cell glioblastoma
Gliosarcoma
Achondroplasia
Antley-Bixler syndrome
Apert syndrome
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon disease
Crouzon syndrome - acanthosis nigricans
FGFR2-related bent bone dysplasia
Familial scaphocephaly syndrome, McGillivray type
Hypochondroplasia
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Isolated scaphocephaly
Jackson-Weiss syndrome
Muenke syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Precursor B-cell acute lymphoblastic leukemia
Autosomal agammaglobulinemia
Multiple synostoses syndrome
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hyper-IgE syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Aplasia of lacrimal and salivary glands
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Anaplastic ependymoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
SHORT syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Acute promyelocytic leukemia
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Focal facial dermal dysplasia
ICF syndrome
Isolated NADH-CoQ reductase deficiency
Isolated anophthalmia - microphthalmia
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Monomelic amyotrophy
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Pycnodysostosis
Septo-optic dysplasia
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Acrocallosal syndrome
Aldosterone-producing adenoma with seizures and neurological abnormalities
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Sinoatrial node dysfunction and deafness
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
- ACS3
- Acrocephalosyndactyly type 3
- SCS
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
- Rare oncologic disease
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
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR2 P21802176943
FGFR3 P22607134934
TWIST1 Q15672601622
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