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Macrocephaly, benign familial

MedGen UID:
113101
Concept ID:
C0220690
Congenital Abnormality
Synonyms: Benign familial megalencephaly; Cole-Hughes syndrome
 
Monarch Initiative: MONDO:0007923
OMIM®: 153470

Definition

A benign form of macrocephaly, sometimes identified with Sotos syndrome, with normal or near-normal birth weight and length with subsequent obesity, variable developmental delay, and typical square facies with frontal bossing, dished-out midface, biparietal narrowing, and long philtrum. [from MCA/MR]

Clinical features

From HPO
Ventriculomegaly
MedGen UID:
480553
Concept ID:
C3278923
Finding
An increase in size of the ventricular system of the brain.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Dolichocephaly
MedGen UID:
65142
Concept ID:
C0221358
Congenital Abnormality
An abnormality of skull shape characterized by a increased anterior-posterior diameter, i.e., an increased antero-posterior dimension of the skull. Cephalic index less than 76%. Alternatively, an apparently increased antero-posterior length of the head compared to width. Often due to premature closure of the sagittal suture.
Biparietal narrowing
MedGen UID:
340231
Concept ID:
C1854418
Finding
A narrowing of the biparietal diameter (i.e., of the transverse distance between the protuberances of the two parietal bones of the skull).
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.

Recent clinical studies

Diagnosis

Cole TR, Hughes HE
Am J Med Genet 1991 Oct 1;41(1):115-24. doi: 10.1002/ajmg.1320410128. PMID: 1719811

Prognosis

Cole TR, Hughes HE
Am J Med Genet 1991 Oct 1;41(1):115-24. doi: 10.1002/ajmg.1320410128. PMID: 1719811

Clinical prediction guides

López-Hernández T, Ridder MC, Montolio M, Capdevila-Nortes X, Polder E, Sirisi S, Duarri A, Schulte U, Fakler B, Nunes V, Scheper GC, Martínez A, Estévez R, van der Knaap MS
Am J Hum Genet 2011 Apr 8;88(4):422-32. Epub 2011 Mar 17 doi: 10.1016/j.ajhg.2011.02.009. PMID: 21419380Free PMC Article

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