Crouzon syndrome
- Synonyms
- CRANIOFACIAL DYSOSTOSIS, TYPE I; Craniofacial dysostosis; Craniofacial dysostosis type 1; Crouzon craniofacial dysostosis; Crouzon disease
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Summary
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Dental crowding
Dental crowding
- MedGen UID: 11850
- Concept ID: C0040433
- Finding: Finding
Abnormality of head or neck
- Deviated nasal septum
Deviated nasal septum
- MedGen UID: 154288
- Concept ID: C0549397
- Finding: Finding
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- Mandibular prognathia
Mandibular prognathia
- MedGen UID: 98316
- Concept ID: C0399526
- Finding: Finding
Abnormality of head or neck
- Midface retrusion
Midface retrusion
- MedGen UID: 339938
- Concept ID: C1853242
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Dental crowding
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Optic atrophy
Optic atrophy
- MedGen UID: 18180
- Concept ID: C0029124
- Finding: Disease or Syndrome
Abnormality of the eye
- Proptosis
Proptosis
- MedGen UID: 41917
- Concept ID: C0015300
- Finding: Disease or Syndrome
Abnormality of the eye
- Strabismus
Strabismus
- MedGen UID: 21337
- Concept ID: C0038379
- Finding: Disease or Syndrome
Abnormality of the eye
- Visual impairment
Visual impairment
- MedGen UID: 777085
- Concept ID: C3665347
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the immune system
- Conjunctivitis
Conjunctivitis
- MedGen UID: 1093
- Concept ID: C0009763
- Finding: Disease or Syndrome
Abnormality of the immune system
- Keratitis
Keratitis
- MedGen UID: 44013
- Concept ID: C0022568
- Finding: Disease or Syndrome
Abnormality of the immune system
- Conjunctivitis
- Abnormality of the musculoskeletal system
- Abnormality of the cervical spine
Abnormality of the cervical spine
- MedGen UID: 338935
- Concept ID: C1852464
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Brachycephaly
Brachycephaly
- MedGen UID: 113165
- Concept ID: C0221356
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Coronal craniosynostosis
Coronal craniosynostosis
- MedGen UID: 344694
- Concept ID: C1856266
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Craniosynostosis 4
Craniosynostosis 4
- MedGen UID: 322167
- Concept ID: C1833340
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Crouzon syndrome
Crouzon syndrome
- MedGen UID: 1162
- Concept ID: C0010273
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hypoplasia of the maxilla
Hypoplasia of the maxilla
- MedGen UID: 66804
- Concept ID: C0240310
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Sagittal craniosynostosis
Sagittal craniosynostosis
- MedGen UID: 140921
- Concept ID: C0432123
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Shallow orbits
Shallow orbits
- MedGen UID: 351328
- Concept ID: C1865244
- Finding: Finding
Abnormality of the musculoskeletal system
- Abnormality of the cervical spine
- Abnormality of the nervous system
- Hydrocephalus
Hydrocephalus
- MedGen UID: 9335
- Concept ID: C0020255
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Intellectual disability
Intellectual disability
- MedGen UID: 811461
- Concept ID: C3714756
- Finding: Mental or Behavioral Dysfunction
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Sleep apnea
Sleep apnea
- MedGen UID: 11458
- Concept ID: C0037315
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Hydrocephalus
- Ear malformation
- Atresia of the external auditory canal
Atresia of the external auditory canal
- MedGen UID: 78613
- Concept ID: C0266597
- Finding: Congenital Abnormality
Ear malformation
- Conductive hearing impairment
Conductive hearing impairment
- MedGen UID: 9163
- Concept ID: C0018777
- Finding: Disease or Syndrome
Ear malformation
- Atresia of the external auditory canal
- Neoplasm
- Dysgerminoma
Dysgerminoma
- MedGen UID: 41680
- Concept ID: C0013377
- Finding: Neoplastic Process
Neoplasm
- Dysgerminoma
IMPORTANT NOTE: NIH does not independently verify information submitted to the GTR; it relies on submitters to provide information that is accurate and not misleading. NIH makes no endorsements of tests or laboratories listed in the GTR. GTR is not a substitute for medical advice. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.