Cytoscape Web
Click node...


Achondroplasia
1 OMIM reference -
1 associated gene
41 connected diseases
41 signs/symptoms
Disease Type of connection
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Giant cell glioblastoma
Gliosarcoma
Hypochondroplasia
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Isolated plagiocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Multiple synostoses syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Isolated NADH-CoQ reductase deficiency
Monomelic amyotrophy
Pycnodysostosis
Autosomal dominant hypophosphatemic rickets
Deafness with labyrinthine aplasia, microtia, and microdontia
Hypercalcemic tumoral calcinosis
Oculootodental syndrome
Otodental syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
(no synonyms)

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease

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: elderly
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
1 MeSH reference: D000130

Gene symbol UniProt reference OMIM reference
FGFR3 P22607134934
Very frequent
- Anomalies of the ribs
- Anteverted nares / nostrils
- Autosomal dominant inheritance
- Chronic / relapsing otitis
- Depressed nasal bridge
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Frontal bossing / prominent forehead
- Genu varum
- Lordosis
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Metaphyseal anomaly
- Rhizomelic micromelia
- Short hand / brachydactyly
- Short stature / dwarfism / nanism

Frequent
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Abnormal vertebral size / shape
- Apnea / sleep apnea
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow anomalies(excluding luxation)
- Enlarged diaphysis / diaphyses
- Generalized obesity
- Hyperextensible joints / articular hyperlaxity
- Hyperhidrosis / increased sweating
- Hypotonia
- Intrauterine growth retardation
- Kyphosis
- Long rib cage / thorax
- Mid-facial hypoplasia / short / small midface
- Narrow rib cage / thorax
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality

Occasional
- Acanthosis nigricans
- Collapse / sudden death / cardiac arrest / cardiorespiratory arrest
- Death in infancy
- Elbow dislocation
- Elocution disorders / dysarthria / dysphonia
- Hydrocephaly
- Rachidian / spine canal stenosis
- Restricted joint mobility / joint stiffness / ankylosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia