LEOPARD syndrome 3
- Synonyms
- BRAF-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)
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
- Low posterior hairline
Low posterior hairline
- MedGen UID: 383755
- Concept ID: C1855728
- Finding: Finding
Abnormality of head or neck
- Narrow forehead
Narrow forehead
- MedGen UID: 326956
- Concept ID: C1839758
- Finding: Finding
Abnormality of head or neck
- Palpebral thickening
Palpebral thickening
- MedGen UID: 1369577
- Concept ID: C4476868
- Finding: Finding
Abnormality of head or neck
- Prominent forehead
Prominent forehead
- MedGen UID: 373291
- Concept ID: C1837260
- Finding: Finding
Abnormality of head or neck
- Short neck
Short neck
- MedGen UID: 99267
- Concept ID: C0521525
- 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 breast
- Wide intermamillary distance
Wide intermamillary distance
- MedGen UID: 473489
- Concept ID: C1827524
- Finding: Finding
Abnormality of the breast
- Wide intermamillary distance
- Abnormality of the cardiovascular system
- Abnormal aortic valve morphology
Abnormal aortic valve morphology
- MedGen UID: 488999
- Concept ID: C3164445
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Abnormal mitral valve morphology
Abnormal mitral valve morphology
- MedGen UID: 871272
- Concept ID: C4025759
- Finding: Anatomical Abnormality
Abnormality of the cardiovascular system
- Tetralogy of Fallot
Tetralogy of Fallot
- MedGen UID: 21498
- Concept ID: C0039685
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Abnormal aortic valve morphology
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Hypertelorism
- 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
- Epidermal hyperkeratosis
Epidermal hyperkeratosis
- MedGen UID: 338541
- Concept ID: C1848773
- Finding: Finding
Abnormality of the integument
- Few cafe-au-lait spots
Few cafe-au-lait spots
- MedGen UID: 870435
- Concept ID: C4024881
- Finding: Finding
Abnormality of the integument
- Hyperkeratosis
Hyperkeratosis
- MedGen UID: 209030
- Concept ID: C0870082
- Finding: Disease or Syndrome
Abnormality of the integument
- Multiple lentigines
Multiple lentigines
- MedGen UID: 272242
- Concept ID: C1328931
- Finding: Disease or Syndrome
Abnormality of the integument
- Numerous nevi
Numerous nevi
- MedGen UID: 341508
- Concept ID: C1849677
- Finding: Finding
Abnormality of the integument
- Curly hair
- Abnormality of the musculoskeletal system
- Delayed skeletal maturation
Delayed skeletal maturation
- MedGen UID: 108148
- Concept ID: C0541764
- Finding: Finding
Abnormality of the musculoskeletal system
- Dolichocephaly
Dolichocephaly
- MedGen UID: 65142
- Concept ID: C0221358
- Finding: Congenital Abnormality
Abnormality of the musculoskeletal system
- Macrocephaly
Macrocephaly
- MedGen UID: 745757
- Concept ID: C2243051
- Finding: Finding
Abnormality of the musculoskeletal system
- Neonatal hypotonia
Neonatal hypotonia
- MedGen UID: 412209
- Concept ID: C2267233
- Finding: Disease or Syndrome
Abnormality of the musculoskeletal system
- Shield chest
Shield chest
- MedGen UID: 322348
- Concept ID: C1834124
- Finding: Finding
Abnormality of the musculoskeletal system
- Delayed skeletal maturation
- 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
- Intellectual disability
- Ear malformation
- Low-set ears
Low-set ears
- MedGen UID: 65980
- Concept ID: C0239234
- Finding: Congenital Abnormality
Ear malformation
- Posteriorly rotated ears
Posteriorly rotated ears
- MedGen UID: 96566
- Concept ID: C0431478
- Finding: Congenital Abnormality
Ear malformation
- Sensorineural hearing loss disorder
Sensorineural hearing loss disorder
- MedGen UID: 9164
- Concept ID: C0018784
- Finding: Disease or Syndrome
Ear malformation
- Low-set ears
- Growth abnormality
- Growth delay
Growth delay
- MedGen UID: 99124
- Concept ID: C0456070
- Finding: Pathologic Function
Growth abnormality
- Short stature
Short stature
- MedGen UID: 87607
- Concept ID: C0349588
- Finding: Finding
Growth abnormality
- Growth delay
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