Table 2. [Cantú Syndrome: Frequency of Select Features]. - GeneReviews®

Feature	% of Persons w/Feature	Comment
Polyhydramnios	57%
Prematurity (<37 weeks)	58%
Neonatal hypertrichosis	99%
Macrosomia	38%	Birth weight >4,000 g
Generalized edema at birth	43%
Macrocephaly	48% of adults studied
Skeletal abnormalities	19%	Usually asymptomatic so detection dependent on imaging; not all persons had full skeletal survey
Gastroesophageal reflux	42%
Cardiovascular findings	PDA	58%
Valvular defects	18%	Bicuspid aortic valve, mitral valve regurgitation, aortic valve stenosis
Cardiac enlargement	64%
Dilated aortic root	32%
Pericardial effusion	25%
Tortuous vascularity	100% (10/10) on neurovascular imaging	True number is unknown in entire population; neuroimaging at Washington University in St Louis showed that all tested persons have this finding in head & neck.
Pulmonary hypertension	24%	Seen in infancy; typically resolves w/age
Peripheral edema	51%	Usually develops in teenagers & young adults
Developmental delays	63%	Present in infants & young children related to hypotonia, but improve over time; most have normal intellect.
Hypotonia	65%
Headaches	40%	Often migraine-type headache w/assoc symptoms
Seizures	24%	Various types
Behavioral issues ¹	ADHD	19%
ASD	16%
OCD	13%
Anxiety	13%
Depression	19%

Feature

% of Persons
w/Feature

Comment

Polyhydramnios

57%

Prematurity (<37 weeks)

58%

Neonatal hypertrichosis

99%

Macrosomia

38%

Birth weight >4,000 g

Generalized edema at birth

43%

Macrocephaly

48% of adults
studied

Skeletal abnormalities

19%

Usually asymptomatic so detection dependent on imaging; not all persons had full skeletal survey

Gastroesophageal reflux

42%

Cardiovascular findings

PDA

58%

Valvular defects

18%

Bicuspid aortic valve, mitral valve regurgitation, aortic valve stenosis

Cardiac enlargement

64%

Dilated aortic root

32%

Pericardial effusion

25%

Tortuous vascularity

100% (10/10) on neurovascular imaging

True number is unknown in entire population; neuroimaging at Washington University in St Louis showed that all tested persons have this finding in head & neck.

Pulmonary hypertension

24%

Seen in infancy; typically resolves w/age

Peripheral edema

51%

Usually develops in teenagers & young adults

Developmental delays

63%

Present in infants & young children related to hypotonia, but improve over time; most have normal intellect.

Hypotonia

65%

Headaches

40%

Often migraine-type headache w/assoc symptoms

Seizures

24%

Various types

Behavioral issues ¹

ADHD

19%

ASD

16%

OCD

13%

Anxiety

13%

Depression

19%

From: Cantú Syndrome

GeneReviews^® [Internet].

Adam MP, Feldman J, Mirzaa GM, et al., editors.

Seattle (WA): University of Washington, Seattle; 1993-2025.

GeneReviews® chapters are owned by the University of Washington. Permission is hereby granted to reproduce, distribute, and translate copies of content materials for noncommercial research purposes only, provided that (i) credit for source (http://www.genereviews.org/) and copyright (© 1993-2025 University of Washington) are included with each copy; (ii) a link to the original material is provided whenever the material is published elsewhere on the Web; and (iii) reproducers, distributors, and/or translators comply with the GeneReviews® Copyright Notice and Usage Disclaimer. No further modifications are allowed. For clarity, excerpts of GeneReviews chapters for use in lab reports and clinic notes are a permitted use.

For more information, see the GeneReviews® Copyright Notice and Usage Disclaimer.

For questions regarding permissions or whether a specified use is allowed, contact: ude.wu@tssamda.

NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.