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14 associated genes
No signs/symptoms info
PROTEIN INTERACTIONS: 2
1 OMIM reference -
3 associated genes
38 signs/symptoms
Semilobar holoprosencephaly
Saethre-Chotzen syndrome

CDON FGFR2
DISP1 FGFR3
DLL1 TWIST1
FGF8
FOXH1
GAS1
GLI2
NODAL
PTCH1
SHH
SIX3
TDGF1
TGIF1
ZIC2


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGF8
FGF8
(0.73)
(0.62)
FGFR3
FGFR2



Citations in the biomedical literature:


Semilobar holoprosencephaly
CDON DISP1 DLL1 FGF8 FOXH1 GAS1
GLI2 NODAL PTCH1 SHH SIX3 TDGF1
TGIF1 ZIC2
Saethre-Chotzen syndrome
FGFR2 FGFR3 TWIST1



Semilobar holoprosencephaly
Saethre-Chotzen syndrome

Synonym(s):
(no synonyms)

Synonym(s):
- ACS3
- Acrocephalosyndactyly type 3
- SCS

Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare neurologic disease
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 -
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: -
Type of inheritance: multigenic/multifactorial
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:
No OMIM references
No MeSH references
External references:
1 OMIM reference -
No MeSH references

Saethre-Chotzen syndrome

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


Semilobar holoprosencephaly

(no data available)