Megalencephaly-capillary malformation-polymicrogyria syndrome
- Synonyms
- MACROCEPHALY-CAPILLARY MALFORMATION; MEGALENCEPHALY-CAPILLARY MALFORMATION SYNDROME; MEGALENCEPHALY-CAPILLARY MALFORMATION-POLYMICROGYRIA SYNDROME, SOMATIC; Macrocephaly cutis marmorata telangiectatica congenita; Macrocephaly-capillary malformation syndrome (M-CM, MCAP); Megalencephaly cutis marmorata telangiectatica congenita; Megalencephaly-Capillary Malformation (MCAP) Syndrome; Megalencephaly-Capillary Malformation Syndrome (MCAP Syndrome); Megalocephaly cutis marmorata telangiectatica congenita
- Modes of inheritance
- Not genetically inherited (Orphanet)
Summary
Excerpted from the GeneReview:- Full text of GeneReview (by section):
- Summary
- GeneReview Scope
- Diagnosis
- Clinical Characteristics
- Genetically Related (Allelic) Disorders
- Differential Diagnosis
- Management
- Genetic Counseling
- Resources
- Molecular Genetics
- Chapter Notes
- References
- Authors:
- Ghayda Mirzaa
- John M Graham
- Kim Keppler-Noreuil
- view full author information
Available tests
Check Related conditions for additional relevant tests.
Clinical features
Help- Abnormality of head or neck
- Broad forehead
Broad forehead
- MedGen UID: 338610
- Concept ID: C1849089
- 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
- 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
- Smooth philtrum
Smooth philtrum
- MedGen UID: 222980
- Concept ID: C1142533
- Finding: Finding
Abnormality of head or neck
- Broad forehead
- Abnormality of limbs
- Polydactyly
Polydactyly
- MedGen UID: 57774
- Concept ID: C0152427
- Finding: Congenital Abnormality
Abnormality of limbs
- Syndactyly
Syndactyly
- MedGen UID: 52619
- Concept ID: C0039075
- Finding: Congenital Abnormality
Abnormality of limbs
- Polydactyly
- Abnormality of the cardiovascular system
- Ventricular septal defect
Ventricular septal defect
- MedGen UID: 42366
- Concept ID: C0018818
- Finding: Congenital Abnormality
Abnormality of the cardiovascular system
- Ventricular septal defect
- Abnormality of the eye
- Hypertelorism
Hypertelorism
- MedGen UID: 9373
- Concept ID: C0020534
- Finding: Finding
Abnormality of the eye
- Microphthalmia
Microphthalmia
- MedGen UID: 10033
- Concept ID: C0026010
- Finding: Congenital Abnormality
Abnormality of the eye
- Hypertelorism
- Abnormality of the integument
- Cutis marmorata
Cutis marmorata
- MedGen UID: 78093
- Concept ID: C0263401
- Finding: Disease or Syndrome
Abnormality of the integument
- Cutis marmorata
- Abnormality of the musculoskeletal system
- Generalized hypotonia
Generalized hypotonia
- MedGen UID: 346841
- Concept ID: C1858120
- Finding: Finding
Abnormality of the musculoskeletal system
- Hernia
Hernia
- MedGen UID: 6816
- Concept ID: C0019270
- Finding: Finding
Abnormality of the musculoskeletal system
- Hypotonia
Hypotonia
- MedGen UID: 10133
- Concept ID: C0026827
- Finding: Finding
Abnormality of the musculoskeletal system
- Joint hypermobility
Joint hypermobility
- MedGen UID: 336793
- Concept ID: C1844820
- Finding: Finding
Abnormality of the musculoskeletal system
- Progressive macrocephaly
Progressive macrocephaly
- MedGen UID: 395368
- Concept ID: C1859896
- Finding: Finding
Abnormality of the musculoskeletal system
- Generalized hypotonia
- Abnormality of the nervous system
- Cavum septum pellucidum
Cavum septum pellucidum
- MedGen UID: 327087
- Concept ID: C1840380
- Finding: Finding
Abnormality of the nervous system
- Global developmental delay
Global developmental delay
- MedGen UID: 107838
- Concept ID: C0557874
- Finding: Finding
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
- Megalencephaly
Megalencephaly
- MedGen UID: 65141
- Concept ID: C0221355
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Meningioma
Meningioma
- MedGen UID: 7532
- Concept ID: C0025286
- Finding: Neoplastic Process
Abnormality of the nervous system
- Polymicrogyria
Polymicrogyria
- MedGen UID: 78605
- Concept ID: C0266464
- Finding: Congenital Abnormality
Abnormality of the nervous system
- Seizure
Seizure
- MedGen UID: 20693
- Concept ID: C0036572
- Finding: Sign or Symptom
Abnormality of the nervous system
- Ventriculomegaly
Ventriculomegaly
- MedGen UID: 480553
- Concept ID: C3278923
- Finding: Finding
Abnormality of the nervous system
- Cavum septum pellucidum
- Ear malformation
- Large earlobe
Large earlobe
- MedGen UID: 334979
- Concept ID: C1844573
- Finding: Finding
Ear malformation
- Large earlobe
- Growth abnormality
- Overgrowth
Overgrowth
- MedGen UID: 376550
- Concept ID: C1849265
- Finding: Finding
Growth abnormality
- Overgrowth
- Neoplasm
- Leukemia
Leukemia
- MedGen UID: 9725
- Concept ID: C0023418
- Finding: Neoplastic Process
Neoplasm
- Nephroblastoma
Nephroblastoma
- MedGen UID: 10221
- Concept ID: C0027708
- Finding: Neoplastic Process
Neoplasm
- Leukemia
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