Cleidocranial dysostosis
- Synonyms
- CLEIDOCRANIAL DYSPLASIA 1; Cleidocranial Dysplasia; Marie-Sainton disease
- Modes of inheritance
- Autosomal dominant inheritance (Orphanet)
Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Keren Machol
- Roberto Mendoza-Londono
- Brendan Lee
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (51 available)
Clinical features
Help- Abnormality of head or neck
- Cleft palate
Cleft palate
- MedGen UID: 756015
- Concept ID: C2981150
- Finding: Congenital Abnormality
Abnormality of head or neck
- Delayed eruption of permanent teeth
Delayed eruption of permanent teeth
- MedGen UID: 340353
- Concept ID: C1849540
- Finding: Finding
Abnormality of head or neck
- Delayed eruption of primary teeth
Delayed eruption of primary teeth
- MedGen UID: 341477
- Concept ID: C1849538
- Finding: Finding
Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Enamel hypoplasia
Enamel hypoplasia
- MedGen UID: 3730
- Concept ID: C0011351
- Finding: Disease or Syndrome
Abnormality of head or neck
- High palate
High palate
- MedGen UID: 66814
- Concept ID: C0240635
- Finding: Congenital Abnormality
Abnormality of head or neck
- High, narrow palate
High, narrow palate
- MedGen UID: 324787
- Concept ID: C1837404
- 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
- Narrow palate
Narrow palate
- MedGen UID: 278045
- Concept ID: C1398312
- Finding: Finding
Abnormality of head or neck
- Teeth, supernumerary
Teeth, supernumerary
- MedGen UID: 21210
- Concept ID: C0040457
- Finding: Anatomical Abnormality
Abnormality of head or neck
- Wide nasal bridge
Wide nasal bridge
- MedGen UID: 341441
- Concept ID: C1849367
- Finding: Finding
Abnormality of head or neck
- Cleft palate
- Abnormality of limbs
- Brachydactyly
Brachydactyly
- MedGen UID: 67454
- Concept ID: C0221357
- Finding: Congenital Abnormality
Abnormality of limbs
- Coxa vara
Coxa vara
- MedGen UID: 1790477
- Concept ID: C5551440
- Finding: Anatomical Abnormality
Abnormality of limbs
- Long second metacarpal
Long second metacarpal
- MedGen UID: 350045
- Concept ID: C1861531
- Finding: Finding
Abnormality of limbs
- Short middle phalanx of the 2nd finger
Short middle phalanx of the 2nd finger
- MedGen UID: 867077
- Concept ID: C4021435
- Finding: Anatomical Abnormality
Abnormality of limbs
- Short middle phalanx of the 5th finger
Short middle phalanx of the 5th finger
- MedGen UID: 322335
- Concept ID: C1834060
- Finding: Anatomical Abnormality
Abnormality of limbs
- Brachydactyly
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the musculoskeletal system
- Abnormal facility in opposing the shoulders
Abnormal facility in opposing the shoulders
- MedGen UID: 348379
- Concept ID: C1861517
- Finding: Finding
Abnormality of the musculoskeletal system
- Absent frontal sinuses
Absent frontal sinuses
- MedGen UID: 343405
- Concept ID: C1855669
- Finding: Finding
Abnormality of the musculoskeletal system
- Absent paranasal sinuses
Absent paranasal sinuses
- MedGen UID: 346522
- Concept ID: C1857131
- Finding: Finding
Abnormality of the musculoskeletal system
- Aplastic clavicle
Aplastic clavicle
- MedGen UID: 341820
- Concept ID: C1857665
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Cervical rib
Cervical rib
- MedGen UID: 102359
- Concept ID: C0158779
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Cone-shaped epiphyses of the phalanges of the hand
Cone-shaped epiphyses of the phalanges of the hand
- MedGen UID: 347156
- Concept ID: C1859480
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed pubic bone ossification
Delayed pubic bone ossification
- MedGen UID: 357116
- Concept ID: C1866710
- Finding: Finding
Abnormality of the musculoskeletal system
- Frontal bossing
Frontal bossing
- MedGen UID: 67453
- Concept ID: C0221354
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Hip dislocation
Hip dislocation
- MedGen UID: 42455
- Concept ID: C0019554
- Finding: Injury or Poisoning
Abnormality of the musculoskeletal system
- Hypoplastic frontal sinuses
Hypoplastic frontal sinuses
- MedGen UID: 349225
- Concept ID: C1859682
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypoplastic iliac wing
Hypoplastic iliac wing
- MedGen UID: 351279
- Concept ID: C1865027
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Hypoplastic scapulae
Hypoplastic scapulae
- MedGen UID: 337579
- Concept ID: C1846434
- Finding: Finding
Abnormality of the musculoskeletal system
- Increased bone mineral density
Increased bone mineral density
- MedGen UID: 10502
- Concept ID: C0029464
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Increased susceptibility to fractures
Increased susceptibility to fractures
- MedGen UID: 234655
- Concept ID: C1390474
- Finding: Finding
Abnormality of the musculoskeletal system
- Kyphosis
Kyphosis
- MedGen UID: 44042
- Concept ID: C0022821
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Large fontanelles
Large fontanelles
- MedGen UID: 105329
- Concept ID: C0456132
- Finding: Finding
Abnormality of the musculoskeletal system
- Large foramen magnum
Large foramen magnum
- MedGen UID: 336194
- Concept ID: C1844508
- Finding: Finding
Abnormality of the musculoskeletal system
- Malar flattening
Malar flattening
- MedGen UID: 347616
- Concept ID: C1858085
- Finding: Finding
Abnormality of the musculoskeletal system
- Micrognathia
Micrognathia
- MedGen UID: 44428
- Concept ID: C0025990
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Narrow chest
Narrow chest
- MedGen UID: 96528
- Concept ID: C0426790
- Finding: Finding
Abnormality of the musculoskeletal system
- Parietal bossing
Parietal bossing
- MedGen UID: 347377
- Concept ID: C1857126
- Finding: Finding
Abnormality of the musculoskeletal system
- Persistent open anterior fontanelle
Persistent open anterior fontanelle
- MedGen UID: 376607
- Concept ID: C1849537
- Finding: Finding
Abnormality of the musculoskeletal system
- Scoliosis
Scoliosis
- MedGen UID: 11348
- Concept ID: C0036439
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Short clavicles
Short clavicles
- MedGen UID: 96529
- Concept ID: C0426799
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Short femoral neck
Short femoral neck
- MedGen UID: 373033
- Concept ID: C1836184
- Finding: Finding
Abnormality of the musculoskeletal system
- Short ribs
Short ribs
- MedGen UID: 98094
- Concept ID: C0426817
- Finding: Finding
Abnormality of the musculoskeletal system
- Spondylolisthesis
Spondylolisthesis
- MedGen UID: 52470
- Concept ID: C0038016
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Spondylolysis
Spondylolysis
- MedGen UID: 21294
- Concept ID: C0038018
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Thickened calvaria
Thickened calvaria
- MedGen UID: 346823
- Concept ID: C1858452
- Finding: Finding
Abnormality of the musculoskeletal system
- Wide pubic symphysis
Wide pubic symphysis
- MedGen UID: 387763
- Concept ID: C1857190
- Finding: Finding
Abnormality of the musculoskeletal system
- Wormian bones
Wormian bones
- MedGen UID: 766814
- Concept ID: C3553900
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Abnormal facility in opposing the shoulders
- Abnormality of the nervous system
- Syringomyelia
Syringomyelia
- MedGen UID: 21449
- Concept ID: C0039144
- Finding: Disease or Syndrome
Abnormality of the nervous system
- Syringomyelia
- Abnormality of the respiratory system
- Neonatal respiratory distress
Neonatal respiratory distress
- MedGen UID: 924182
- Concept ID: C4281993
- Finding: Finding
Abnormality of the respiratory system
- Respiratory distress
Respiratory distress
- MedGen UID: 96907
- Concept ID: C0476273
- Finding: Sign or Symptom
Abnormality of the respiratory system
- Neonatal respiratory distress
- Ear malformation
- Hearing impairment
Hearing impairment
- MedGen UID: 235586
- Concept ID: C1384666
- Finding: Disease or Syndrome
Ear malformation
- Hearing impairment
- Growth abnormality
- Moderately short stature
Moderately short stature
- MedGen UID: 348380
- Concept ID: C1861519
- Finding: Finding
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Moderately short stature
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