Macrocephaly-capillary malformation, abbreviated M-CM, is a multiple malformation syndrome that causes abnormal overgrowth of the body and head together with cutaneous, vascular, neurologic, and limb abnormalities. Not every patient shows every feature, but commonly found signs include an enlarged head, a larger than normal body size at birth, extensive capillary malformations of the skin, asymmetry of the body, fused or extra fingers or toes, loose joints, a doughy skin texture, and variable developmental delay along with other neurologic problems such as seizures and low muscle tone.
Facts
Classification
ICD-10 ChapterXVII: Congenital Malformations, Deformations and Chromosomal Abnormalities 2 Communicable or Non-communicable Transmission Route Causative Agent
Causative Agent (category) First Described Sources
1. Wikipedia: Macrocephaly-capillary malformation
WikipediaArticle text
Mosaic mutations in PIK3CA have been found to be the genetic cause of M-CM.
Lead section, body-system statement
Macrocephaly-capillary malformation (M-CM) is a multiple malformation syndrome causing abnormal body and head overgrowth and cutaneous, vascular, neurologic, and limb abnormalities.
Lead section, transmission-route statement
Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
Lead section, body-system statement (integumentary)
Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
Lead section, body-system statement (muscular)
Though not every patient has all features, commonly found signs include macrocephaly, congenital macrosomia, extensive cutaneous capillary malformation (naevus flammeus or port-wine stain type birthmark over much of the body; a capillary malformation of the upper lip or philtrum is seen in many patients with this condition), body asymmetry (also called hemihyperplasia or hemihypertrophy), polydactyly or syndactyly of the hands and feet, lax joints, doughy skin, variable developmental delay and other neurologic problems such as seizures and low muscle tone.
View the Source 2. Wikipedia: ICD-10
WikipediaList of chapters, Chapter XVIIQuote, List of chapters, Chapter XVII
Congenital malformations, deformations and chromosomal abnormalities
3. Wikipedia: Non-communicable disease
WikipediaInherited/genetic diseases sectionQuote, Inherited/genetic diseases section
Genetic disorders are caused by errors in genetic information that produce diseases in the affected people.
4. Macrocephaly-capillary malformation (Wikipedia)
Reader Challenges (0)
No disputes yet. Spotted an error or a better source? Open the first one.
Sign in to dispute this or suggest a correction.