ORPHA:261494
Kleefstra syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Neonatal
- Status
- active
A rare genetic, intellectual disability syndrome characterized by intellectual disability, childhood hypotonia, severe expressive speech delay, autism spectrum disorder, and a distinctive facial appearance with a spectrum of additional clinical features.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Kleefstra syndrome | |
| fr | Syndrome de Kleefstra | |
| de | Kleefstra-Syndrom | |
| es | Síndrome de Kleefstra | |
| it | Sindrome di Kleefstra | |
| nl | Syndroom van Kleefstra | |
| pt | Síndrome de Kleefstra | |
| pl | Zespół Kleefstra | |
| cs | Kleefstrové syndrom | |
| uk | Синдром Клефстри | |
| zh | Kleefstra综合征 | |
| tr | Kleefstra sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 610253 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0012455 | E | validated | |
| UMLS | C4551771 | E | validated | |
| GARD | 8672 | E | validated | |
| MedDRA | 10079365 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
3
Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (2):
- 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
4
Genes
0 direct · 3 via subtypesOrphanet 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 |
|---|---|---|---|---|---|---|---|---|---|
| EHMT1 | ORPHA:261652Kleefstra syndrome due to a point mutation | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:24650 | ENSG00000181090 | 607001 | 9q34.3 | euchromatic histone lysine methyltransferase 1 | 20945554[PMID] |
| KMT2C | ORPHA:261652Kleefstra syndrome due to a point mutation | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:13726 | ENSG00000055609 | 606833 | 7q36.1 | lysine methyltransferase 2C | 29069077[PMID] |
| EHMT1 | ORPHA:96147Kleefstra syndrome due to 9q34 microdeletion | Role in the phenotype of | Assessed | HGNC:24650 | ENSG00000181090 | 607001 | 9q34.3 | euchromatic histone lysine methyltransferase 1 | 20945554[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 114 cases | Worldwide | Case(s) | Validated | 22670141[PMID]_[EXPERT] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
6
HPO phenotypes
67 annotations · validated 2018-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000280 | Coarse facial features | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0000272 | Malar flattening | |
| HP:0003196 | Short nose | |
| HP:0010804 | Tented upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0011675 | Arrhythmia | |
| HP:0000708 | Atypical behavior | |
| HP:0000729 | Autistic behavior | |
| HP:0001647 | Bicuspid aortic valve | |
| HP:0000248 | Brachycephaly | |
| HP:0000337 | Broad forehead | |
| HP:0000389 | Chronic otitis media | |
| HP:0001680 | Coarctation of aorta | |
| HP:0002019 | Constipation | |
| HP:0000365 | Hearing impairment | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0000158 | Macroglossia | |
| HP:0000303 | Mandibular prognathia | |
| HP:0000252 | Microcephaly | |
| HP:0001513 | Obesity | |
| HP:0000742 | Self-mutilation | |
| HP:0002360 | Sleep abnormality | |
| HP:0000664 | Synophrys | |
| HP:0000391 | Thickened helices | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| Occasional (29-5%) | ||
| HP:0000733 | Abnormal repetitive mannerisms | |
| HP:0006288 | Advanced eruption of teeth | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0002607 | Bowel incontinence | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002376 | Developmental regression | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0002094 | Dyspnea | |
| HP:0000324 | Facial asymmetry | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0100790 | Hernia | |
| HP:0000126 | Hydronephrosis | |
| HP:0008736 | Hypoplasia of penis | |
| HP:0000047 | Hypospadias | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000054 | Micropenis | |
| HP:0004415 | Pulmonary artery stenosis | |
| HP:0002021 | Pyloric stenosis | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0000107 | Renal cyst | |
| HP:0000083 | Renal insufficiency | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0100716 | Self-injurious behavior | |
| HP:0004322 | Short stature | |
| HP:0002558 | Supernumerary nipple | |
| HP:0001762 | Talipes equinovarus | |
| HP:0001636 | Tetralogy of Fallot | |
| HP:0002779 | Tracheomalacia | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261494
- This record as JSON: /data/d/261494.json