ORPHA:96169

Koolen-De Vries syndrome

Synonyms: KdVS

Type: Malformation syndrome
Group: Disorder
Inheritance: Autosomal dominant
Age of onset: Antenatal, Infancy, Neonatal
Status: active

A rare multisystem disorder characterized by neonatal/childhood hypotonia, mild to moderate developmental delay or intellectual disability, epilepsy, dysmorphic facial features, hypermetropia, congenital heart anomalies, congenital renal/urologic anomalies, musculoskeletal problems, and a friendly/amiable disposition.

Names in Orphadata languages

12 of 12 languages

Lang	Name	Synonyms
en	Koolen-De Vries syndrome	KdVS
fr	Syndrome de Koolen-De Vries	= en
de	Koolen-de Vries-Syndrom	Del(17)(q21.31) · KdV-Syndrom · KdVS · Mikrodeletionssyndrom 17q21.31 · Monosomie 17q21.31
es	Síndrome de Koolen-De Vries	= en
it	Sindrome di Koolen-De Vries	= en
nl	Syndroom van Koolen-de Vries	= en
pt	Monossomia 17q21.31
pl	Zespół Koolena i De Vries	= en
cs	Koolenův-de Vriesův syndrom	KdVS · Koolen-de Vriesův syndrom
uk	Синдром Кулена-Де Вріса	= en
zh	Koolen-De Vries 综合征	= en
tr	Koolen-De Vries sendromu	= en

Definition in:

Cross-references

qualifier = Orphanet mapping relation

Source	Code	Qualifier	ICD relation	Validation
OMIM	610443	NTBT		validated
ICD-10	Q87.8	NTBT	attributed	validated
ICD-11	LD24.GY	NTBT	attributed	validated
MONDO	0012496	E		validated
GARD	10727	E		validated

E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.

Classification

Preferential parent (Orphanet linearisation):

ORPHA:93890Rare developmental defect during embryogenesis

Parents in the classifications (3):

ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases
ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
ORPHA:139393Syndromic craniosynostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases

Children (2):

Genes

0 direct · 2 via subtypes

Orphanet records no gene directly on this code.

Recorded by Orphanet on subtypes of this disorder:

Gene	Subtype	Association	Status	HGNC	Ensembl	OMIM	Locus	Name	Source of validation
KANSL1	ORPHA:363965Koolen-De Vries syndrome due to a point mutation	Disease-causing germline mutation(s) (loss of function) in	Assessed	HGNC:24565	ENSG00000120071	612452	17q21.31	KAT8 regulatory NSL complex subunit 1	22544363[PMID]_22544367[PMID]_20301783[PMID]
KANSL1	ORPHA:36395817q21.31 microdeletion syndrome	Role in the phenotype of	Assessed	HGNC:24565	ENSG00000120071	612452	17q21.31	KAT8 regulatory NSL complex subunit 1	19447831[PMID]

Prevalence and incidence

1 record

Type	Class	Value	Area	Qualification	Validation	Source
Point prevalence	Unknown	—	Worldwide	Class only	Validated	[EXPERT]_26306646[PMID]

Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.

HPO phenotypes

82 annotations · validated 2025-09-22

HPO	Term (as annotated by Orphanet)	Diagnostic
Very frequent (99-80%)
HP:0000581	Blepharophimosis
HP:0000337	Broad forehead
HP:0000414	Bulbous nose
HP:0000280	Coarse facial features
HP:0000286	Epicanthus
HP:0000232	Everted lower lip vermilion
HP:0001263	Global developmental delay
HP:0000348	High forehead
HP:0001252	Hypotonia
HP:0001249	Intellectual disability
HP:0000276	Long face
HP:0000396	Overfolded helix
HP:0000426	Prominent nasal bridge
HP:0000411	Protruding ear
HP:0000508	Ptosis
HP:0009928	Thick nasal alae
HP:0000430	Underdeveloped nasal alae
HP:0000582	Upslanted palpebral fissure
HP:0000431	Wide nasal bridge
Frequent (79-30%)
HP:0001671	Abnormal cardiac septum morphology
HP:0001627	Abnormal heart morphology
HP:0010719	Abnormality of hair texture
HP:0000164	Abnormality of the dentition
HP:0007370	Aplasia/Hypoplasia of the corpus callosum
HP:0001166	Arachnodactyly
HP:0001631	Atrial septal defect
HP:0001638	Cardiomyopathy
HP:0007099	Chiari type I malformation
HP:0000028	Cryptorchidism
HP:0000750	Delayed speech and language development
HP:0008872	Feeding difficulties in infancy
HP:0008499	High hypermetropia
HP:0002705	High, narrow palate
HP:0002827	Hip dislocation
HP:0001611	Hypernasal speech
HP:0005599	Hypopigmentation of hair
HP:0000047	Hypospadias
HP:0030746	Intraventricular hemorrhage
HP:0001382	Joint hypermobility
HP:0000691	Microdontia
HP:0000189	Narrow palate
HP:0000648	Optic atrophy
HP:0100025	Overfriendliness
HP:0002465	Poor speech
HP:0001250	Seizure
HP:0000486	Strabismus
HP:0001629	Ventricular septal defect
HP:0002119	Ventriculomegaly
Occasional (29-5%)
HP:0000682	Abnormality of dental enamel
HP:0000739	Anxiety
HP:0007018	Attention deficit hyperactivity disorder
HP:0001647	Bicuspid aortic valve
HP:0000957	Cafe-au-lait spot
HP:0000518	Cataract
HP:0000175	Cleft palate
HP:0000405	Conductive hearing impairment
HP:0000958	Dry skin
HP:0001028	Hemangioma
HP:0000126	Hydronephrosis
HP:0000668	Hypodontia
HP:0000821	Hypothyroidism
HP:0008064	Ichthyosis
HP:0002808	Kyphosis
HP:0001601	Laryngomalacia
HP:0100807	Long fingers
HP:0000252	Microcephaly
HP:0001054	Numerous nevi
HP:0000767	Pectus excavatum
HP:0001763	Pes planus
HP:0002021	Pyloric stenosis
HP:0000075	Renal duplication
HP:0000960	Sacral dimple
HP:0002650	Scoliosis
HP:0004322	Short stature
HP:0002414	Spina bifida
HP:0025268	Stuttering
HP:0000073	Ureteral duplication
HP:0002948	Vertebral fusion
HP:0003422	Vertebral segmentation defect
HP:0000076	Vesicoureteral reflux
Very rare (<4-1%)
HP:0000403	Recurrent otitis media
HP:0000407	Sensorineural hearing impairment

Run the differential on the 12 obligate / very frequent terms

Annotation source: 20301783[PMID]_34665525[PMID]

Sources for this card

Orphanet page: orpha.net/en/disease/detail/96169
This record as JSON: /data/d/96169.json