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Crouzon disease
1 OMIM reference -
2 associated genes
49 connected diseases
32 signs/symptoms
Disease Type of connection
Lacrimo-auriculo-dento-digital syndrome
Antley-Bixler syndrome
Apert syndrome
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Familial lambdoid synostosis
Familial scaphocephaly syndrome, McGillivray type
Isolated cloverleaf skull syndrome
Isolated scaphocephaly
Jackson-Weiss syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Saethre-Chotzen syndrome
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Aplasia of lacrimal and salivary glands
Autosomal agammaglobulinemia
SHORT syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Distal 22q11.2 microdeletion syndrome
Familial prostate cancer
Aldosterone-producing adenoma with seizures and neurological abnormalities
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Sinoatrial node dysfunction and deafness
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
- Crouzon craniofacial dysostosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ERF P50548611888
FGFR2 P21802176943
Very frequent
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Facial dysmorphism
- Frontal bossing / prominent forehead
- High forehead
- Skull / cranial anomalies

Frequent
- Arnold-Chiari anomaly
- Brachycephaly / flat occiput
- Chronic uveitis / blepharitis / episcleritis / scleritis / conjonctivitis / keratitis
- Conductive deafness / hearing loss
- Cranial hypertension
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Ptosis
- Strabismus / squint
- Turricephaly / oxycephaly / acrocephaly

Occasional
- Acanthosis nigricans
- Beaked nose
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Choanal atresia
- Coloboma of iris
- External auditory canal atresia / stenosis / agenesis
- Facial pain / cephalalgia / migraine
- Hearing loss / hypoacusia / deafness
- High vaulted / narrow palate
- Hydrocephaly
- Irregular / patchy skin hypopigmentation
- Optic nerve anomaly / optic atrophy / anomaly of the papilla
- Pigmented naevi / naevus pigmentosus / lentigo
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction
- Sacro-coccyx / sacrum anomaly
- Visual loss / blindness / amblyopia