Cytoscape Web
Click node...


1 OMIM reference -
2 associated genes
11 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
42 signs/symptoms
Isolated plagiocephaly
Pycnodysostosis

FGFR3 CTSK
TCF12


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
FGFR3
(0.63)
CTSK



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Pycnodysostosis
CTSK



Isolated plagiocephaly
Pycnodysostosis

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

Synonym(s):
- Pyknodysostosis

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (Orphanet):
- Inborn errors of metabolism
- 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: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: variable
Average age of death: normal
Type of inheritance: autosomal recessive

External references:
1 OMIM reference -
No MeSH references
External references:
1 OMIM reference -
1 MeSH reference: D058631


COMMON
SIGNS
- Frontal bossing / prominent forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface


Isolated plagiocephaly
Pycnodysostosis

Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- 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


Very frequent
- Anomalies of bones / skeletal anomalies
- Anomalies of spine, vertebrae and pelvis
- Autosomal recessive inheritance
- Brachycephaly / flat occiput
- Clavicle absent / abnormal
- Delayed dentition / eruption of teeth / lack of eruption of teeth
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Dysplastic / thick / grooved fingernails
- Epiphyseal anomaly
- Face / facial anomalies
- High forehead
- High vaulted / narrow palate
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Mutiple fractures / bone fragility
- Osteolysis / osteoclasia / bone destruction / erosions
- Short foot / brachydactyly of toes
- Short hand / brachydactyly
- Short stature / dwarfism / nanism
- Terminal / third phalangeal bone of fingers hypoplasia

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Absent / small fingernails / anonychia of hands
- Blue sclerae
- Bone pain
- Proptosis / exophthalmos
- Tooth shape anomaly
- Wormian bones

Occasional
- Anaemia
- Anomalies of skin, subcutaneous tissue and mucosae
- Hepatomegaly / liver enlargement (excluding storage disease)
- Hydrocephaly
- Kyphosis
- Lordosis
- Nails anomalies
- Narrow rib cage / thorax
- Osteomyelitis / osteitis / periostitis / spondylodisciitis
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Respiratory rhythm disorder
- Splenomegaly