Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
29 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 3
1 OMIM reference -
1 associated gene
21 signs/symptoms
Crouzon syndrome - acanthosis nigricans
Hypochondroplasia

FGFR3 FGFR3


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Crouzon syndrome - acanthosis nigricans
FGFR3
Hypochondroplasia



Crouzon syndrome - acanthosis nigricans
Hypochondroplasia

Synonym(s):
- Crouzono-dermoskeletal syndrome

Synonym(s):
(no synonyms)

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 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: childhood
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
- Abnormal vertebral size / shape
- Autosomal dominant inheritance
- Short hand / brachydactyly


Crouzon syndrome - acanthosis nigricans
Hypochondroplasia

Very frequent
- Acanthosis nigricans
- Frontal bossing / prominent forehead
- High forehead

Frequent
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hydrocephaly
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Ptosis
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Beaked nose
- Facial pain / cephalalgia / migraine
- High vaulted / narrow palate
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia


Very frequent
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Short foot / brachydactyly of toes
- Short limbs / micromelia / brachymelia
- Short stature / dwarfism / nanism

Frequent
- Elbow anomalies(excluding luxation)
- Femur anomaly / absence / agenesis / hypoplasia / bifurcation
- Genu varum
- Hyperextensible joints / articular hyperlaxity
- Metaphyseal anomaly
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Occasional
- Apnea / sleep apnea
- Bowed diaphysis / diaphyses / long bones
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Lordosis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Osteoarthritis
- Rachidian / spine canal stenosis
- Scoliosis