LEOPARD syndrome 2
- Synonyms
- RAF1-Related LEOPARD Syndrome
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:
- Bruce D Gelb
- Marco Tartaglia
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical tests (76 available)
Genes See tests for all associated and related genes
Also known as: CMD1NN, CRAF, NS5, Raf-1, c-Raf, RAF1
Summary: Raf-1 proto-oncogene, serine/threonine kinase
Clinical features
Help- Abnormality of head or neck
- Depressed nasal bridge
Depressed nasal bridge
- MedGen UID: 373112
- Concept ID: C1836542
- Finding: Finding
Abnormality of head or neck
- Downslanted palpebral fissures
Downslanted palpebral fissures
- MedGen UID: 98391
- Concept ID: C0423110
- Finding: Finding
Abnormality of head or neck
- Epicanthus
Epicanthus
- MedGen UID: 151862
- Concept ID: C0678230
- 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
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- Finding: Finding
Abnormality of head or neck
- Thick lower lip vermilion
Thick lower lip vermilion
- MedGen UID: 326567
- Concept ID: C1839739
- Finding: Finding
Abnormality of head or neck
- Webbed neck
Webbed neck
- MedGen UID: 113154
- Concept ID: C0221217
- Finding: Congenital Abnormality
Abnormality of head or neck
- Depressed nasal bridge
- Abnormality of limbs
- Cubitus valgus
Cubitus valgus
- MedGen UID: 490152
- Concept ID: C0158465
- Finding: Acquired Abnormality
Abnormality of limbs
- Cubitus valgus
- Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
Hypertrophic cardiomyopathy
- MedGen UID: 2881
- Concept ID: C0007194
- Finding: Disease or Syndrome
Abnormality of the cardiovascular system
- Hypertrophic cardiomyopathy
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Cafe-au-lait spot
Cafe-au-lait spot
- MedGen UID: 113157
- Concept ID: C0221263
- Finding: Finding
Abnormality of the integument
- Curly hair
Curly hair
- MedGen UID: 488919
- Concept ID: C0558165
- Finding: Finding
Abnormality of the integument
- Dry skin
Dry skin
- MedGen UID: 56250
- Concept ID: C0151908
- Finding: Sign or Symptom
Abnormality of the integument
- Multiple lentigines
Multiple lentigines
- MedGen UID: 272242
- Concept ID: C1328931
- Finding: Disease or Syndrome
Abnormality of the integument
- Cafe-au-lait spot
- Abnormality of the musculoskeletal system
- Abnormal sternum morphology
Abnormal sternum morphology
- MedGen UID: 349830
- Concept ID: C1860493
- Finding: Anatomical Abnormality
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Abnormal sternum morphology
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Low-set ears
- Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Short stature
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