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1 OMIM reference -
2 associated genes
11 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
42 signs/symptoms
Isolated plagiocephaly
Thanatophoric dysplasia type 1

FGFR3 FGFR3
TCF12


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Isolated plagiocephaly
FGFR3 TCF12
Thanatophoric dysplasia type 1



Isolated plagiocephaly
Thanatophoric dysplasia type 1

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

Synonym(s):
- TD1
- Thanatophoric dwarfism type 1

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic 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: 1-5 / 10 000
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:
1 OMIM reference -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Frontal bossing / prominent forehead
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly


Isolated plagiocephaly
Thanatophoric dysplasia type 1

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
- Mid-facial hypoplasia / short / small midface


Very frequent
- Bowed diaphysis / diaphyses / long bones
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Flat face
- Hypotonia
- Loose skin / skin relaxation / excess skin / creases
- Metaphyseal anomaly
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Platyspondyly
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Rhizomelic micromelia
- Sacroiliac joints anomalies
- Short hand / brachydactyly
- Short limbs / micromelia / brachymelia
- Short rib cage / thorax
- Short stature / dwarfism / nanism
- Small face
- Stillbirth / neonatal death
- Trident hand / split hand / abnormal median ray

Frequent
- Dilated cerebral ventricles without hydrocephaly
- Hypoplastic lungs / pulmonary hypoplasia / agenesis
- Increased nuchal translucency
- Kyphosis
- Polyhydramnios
- Proptosis / exophthalmos
- Rippled skin

Occasional
- Acanthosis nigricans
- Agyria / micro / pachy / macrogyria / lissencephaly / gyration / neuronal migration defect
- Atrial septal defect / interauricular communication
- Cloverleaf skull
- Hydrocephaly
- Patent ductus arteriosus
- Renal / kidney anomalies
- Restricted joint mobility / joint stiffness / ankylosis
- Seizures / epilepsy / absences / spasms / status epilepticus