Table 2.

Koolen-de Vries Syndrome: Frequency of Select Features

FeatureFrequency
Very common 1Common 2Less common 3Occasional 4Comments
Distinctive facial features●See Dysmorphic craniofacial features after this table.
Developmental delay / intellectual disability●Particularly in areas of speech & language delay
Hypotonia●Neonatal/childhood
Structural brain anomalies●Incl ventriculomegaly, corpus callosum anomalies, Arnold-Chiari type I malformation, & intraventricular hemorrhage
Joint hypermobility●Incl joint dislocation/dysplasia
Seizures/epilepsy●
Friendly/amiable disposition●
Visual impairment●Hypermetropia, strabismus, congenital cataract, optic atrophy
Congenital heart defects●VSD, ASD, bicuspid aortic valve, cardiomyopathy, aortic root dilatation
Genitourinary anomalies●Cryptorchidism, hypospadias, hydronephrosis/VUR, renal duplication
Feeding difficulties●
Musculoskeletal anomalies●Long fingers, pes planus, pes cavus, calcaneovalgus deformity, scoliosis/kyphosis, pectus anomalies
Anxiety●
ADHD●
Hearing impairment●Most commonly conductive, although sensorineural hearing loss has been reported
Tracheo-/laryngomalacia●
Integument●Multiple nevi, fair hair, hemangioma, café au lait macules

Based on data from the Human Disease Genes website

ADHD = attention-deficit/hyperactivity disorder; ASD = atrial septal defect; VSD = ventriculoseptal defect; VUR = vesicoureteral reflux

1.

Present in more than 75% of affected individuals

2.

Present in 50%-75% of affected individuals

3.

Present in 25%-49% of affected individuals

4.

Present in 10-24% of affected individuals

From: Koolen-de Vries Syndrome

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