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1 OMIM reference -
1 associated gene
7 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 1
1 OMIM reference -
2 associated genes
11 signs/symptoms
Severe achondroplasia - developmental delay - acanthosis nigricans
Isolated plagiocephaly

FGFR3 FGFR3
TCF12


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Severe achondroplasia - developmental delay - acanthosis nigricans
FGFR3
Isolated plagiocephaly
TCF12



Severe achondroplasia - developmental delay - acanthosis nigricans
Isolated plagiocephaly

Synonym(s):
- SADDAN

Synonym(s):
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare skin disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- 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 / 1 000 000
Average age onset: childhood
Average age of death: no data available
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Intellectual deficit / mental / psychomotor retardation / learning disability


Severe achondroplasia - developmental delay - acanthosis nigricans
Isolated plagiocephaly

Very frequent
- Anomalies of bones / skeletal anomalies
- Seizures / epilepsy / absences / spasms / status epilepticus

Frequent
- Clavicle absent / abnormal
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Fibula anomaly (excluding short) / absence / agenesis / hypoplasia / fibular ray anomaly
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly



Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

Frequent
- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

Occasional
- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface