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multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

MONDO:0015160

Also known as:MCA/variable MRmultiple congenital anomalies-variable intellectual disability with or without dysmorphism syndrome

Overview

OnsetNEONATAL, CONGENITAL, ANTENATAL, CHILDHOOD, ADULT, INFANTILE

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

No HPO annotations are available for this condition.

Age of onset: newborn period, at birth, before birth, childhood, adulthood, infancy.

GeneReviews

Clinical Guidance

Cant syndrome is characterized by congenital hypertrichosis; distinctive coarse facial features (including broad nasal bridge, wide mouth with thick vermilion of the upper and lower lips, and macroglossia); enlarged heart with enhanced systolic function or pericardial effusion and, in many, a large patent ductus arteriosus (PDA) requiring repair; and skeletal abnormalities (thickening of the calvaria, broad ribs, scoliosis, and flaring of the metaphyses). Unless noted otherwise, the following description and reported incidence of the phenotypic features associated with this condition is based on 107 individuals with identified pathogenic variants in ABCC9 or KCNJ8 . Table 2. Cant Syndrome: Frequency of Select Features

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

No formal diagnostic criteria for Cant syndrome have been established.

Suggestive Findings

Cant syndrome should be suspected in probands with the following clinical and imaging findings and family history.

Clinical findings

Congenital hypertrichosis: excess hair growth on scalp, forehead, face, back, and limbs (See and .)

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

No clinical practice guidelines for Cant syndrome have been published. In the absence of published guidelines, the following recommendations are based on the authors' personal experience managing individuals with this disorder.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with Cant syndrome, the evaluations summarized (if not performed as part of the evaluation that led to the diagnosis) are recommended.

Prognosis

Based on GeneReviews surveillance recommendations, HPO phenotype frequency and severity annotations, and published prevalence estimates from Orphanet and OMIM.

GeneReviews

Surveillance Guidelines

To monitor existing manifestations, the individual's response to supportive care, and the emergence of new manifestations, the evaluations summarized in are recommended. Table 7. Cant Syndrome: Recommended Surveillance

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome.

171 publications have been identified in PubMed for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome. Research spans Case Report / Case Series (32%), Basic Science / Preclinical (26%), and Review / Meta-Analysis (23%).

Research Type	Count	% of Total
Patient case studies	55

Data assembled from 4 of 12 sources · Last updated Oct 3, 2026, 8:13 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:102284

Questions for Your Care Team

→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Feature	% of Personsw/Feature	Comment
Neonatal hypertrichosis	99%	—
Cardiovascular findings	Cardiac enlargement	64%
PDA	58%	—
Dilated aortic root	32%	—
Pericardial effusion	25%	—
Valvular defects	18%	Bicuspid aortic valve, mitral valve regurgitation, aortic valve stenosis
Tortuous vascularity	100% (10/10) on neurovascular imaging	True prevalence of this feature is unknown.
In 1 study all persons evaluated by neurovascular imaging had this finding in head neck.1 Hypotonia	65%	—
Developmental delays	63%	Present in infants young children; Related to hypotonia but improves over time
Most have normal intellect Peripheral edema	51%	Usually develops in teenagers young adults
Macrocephaly	48%	Of adults studied
Gastroesophageal reflux	42%	—
Headaches	40%	Often migraine-type headache w/assoc symptoms
Pulmonary hypertension	24%	Seen in infancy; Typically resolves w/age
Can occur in older persons Seizures	24%	Various types
Behavioral issues2	ADHD	19%
ASD	16%	—
OCD	13%	—
Anxiety	13%	—
Depression	19%	—
Skeletal abnormalities	19%	Usually asymptomatic so detection dependent on imaging ADHD = attention-deficit/hyperactivity disorder; ASD = autism spectrum disorder; OCD = obsessive-compulsive disorder; PDA = patent ductus arteriosus 1. 2. Prenatal/neonatal.

GeneReviews

Differential Diagnosis

Genetic Disorders Table 4. Cant Syndrome: Differential Diagnosis

Gene(s)/ Genetic Mechanism	Disorder	MOI	Features of Disorder
Beckwith-Wiedemann syndrome	Variable2	Neonatal macrosomia; full or prominent cheeks; macroglossia; umbilical hernia	Neonatal hypoglycemia hyperinsulinism; ear pits creases; omphalocele; hemihypertrophy; abdominal tumors in childhood (Wilms tumor, hepatoblastoma) ATP6V1B2 KCNH1
KCNN3	Zimmermann-Laband syndrome (OMIM PS135500)	AD	Hypertrichosis; coarse facial features; thick vermilion of upper lower lips; macrosomia at birth; PDA; aortic root dilatation; scoliosis; hypotonia
BSCL2	Berardinelli-Seip congenital lipodystrophy (BSCL)	AR	Athletic appearance (due to lipoatrophy skeletal muscle hypertrophy in BSCL); cardiomegaly (caused by hypertrophic cardiomyopathy in BSCL)
Nonsyndromic hypertrophic cardiomyopathy	ADAR	Cardiomegaly	Absence of noncardiac findings(Note: Persons w/Cant syndrome have normal ventricular wall thickness normal or enhanced myocardial function [despite enlargement of cardiac chambers] high cardiac output.) 40 genesincl:4BAG3DESFLNCLMNAMYH7PLNRBM20SCN5ATNNC1TNNT2TTN
KCNK4	FHEIG syndrome (Bauer-Tartaglia syndrome) (OMIM 618381)	AD	Hypertrichosis; coarse facial features; thick scalp hair; wide mouth; hypotonia
GALNS	Mucopolysaccharidosis type IVA (Morquio syndrome type A)	AR	Coarse facial features hirsutism; some skeletal radiologic features (e.g., thickening of ribs)
GNPTAB	Mucolipidosis III/ (See GNPTAB Disorders.)	AR GNPTG	Mucolipidosis III gamma
IDS	Mucopolysaccharidosis type II (Hunter syndrome)	XL	—
IDUA	Severe Mucopolysaccharidosis type I	AR MAN2B1	Alpha-mannosidosis AD = autosomal dominant; AR = autosomal recessive; CNV = copy number variant; DD = developmental delay; FHEIG syndrome = facial dysmorphism, hypertrichosis, epilepsy, intellectual/...

Source: GeneReviews — "Cant Syndrome"

Kisho

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Cardiac

Neurologic

Development

Lymphatic

Skeletal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome

Overview

Clinical Presentation

Clinical Guidance

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

Orphanet

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Differential Diagnosis

Cardiac

Neurologic

Development

Lymphatic

Skeletal

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications