17q24.2 microdeletion syndrome
Synonyms: Del(17)(q24)
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare, genetic, multiple congenital anomalies/dysmorphic features-intellectual disability syndrome characterized by developmental and speech delay, intellectual disability, feeding difficulties, failure to thrive, growth retardation, and associated malformations such as abnormality of fingers and toes (i.e. clinodactyly of the 5th finger, 2-3 toe syndactyly), microcephaly, heart defects, and upper airways anomalies. Observed facial dysmorphism includes hypertelorism, small, narrow or downslanting palpebral fissures, ptosis, epicanthus, ear malformations, broad nasal bridge, bulbous/prominent nose, short philtrum, thin lips, retrognathia/micrognathia, arched/cleft palate, and dental anomalies. Additional variable manifestations include hearing and visual impairment, seizures, joint anomalies, obesity, and behavioral/psychiatric disorders.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 17q24.2 microdeletion syndrome | Del(17)(q24) |
| fr | Syndrome de microdélétion 17q24.2 | = en |
| de | Mikrodeletionssyndrom 17q24.2 | del(17)(q24) |
| es | Síndrome de microdeleción 17q24.2 | = en |
| it | Sindrome da microdelezione 17q24.2 | |
| nl | 17q24.2-microdeletiesyndroom | = en |
| pt | Síndrome de microdeleção 17q24.2 | = en |
| pl | Zespół mikrodelecji 17q24.2 | = en |
| cs | Mikrodeleční syndrom 17q24.2 | = en |
| uk | Синдром мікроделеції 17q24.2 | = en |
| zh | 染色体17q24.2 微缺失综合征 | 染色体17q24.2缺失综合征 |
| tr | 17q24.2 mikrodelesyon sendromu | = en |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0035151 | E | validated | |
| UMLS | C5680185 | 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):
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:262137Partial deletion of the long arm of chromosome 17 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| BPTF | Role in the phenotype of | Assessed | HGNC:3581 | ENSG00000171634 | 601819 | 17q24.2 | bromodomain PHD finger transcription factor | 28465847[PMID]_29696806[PMID] |
| PSMD12 | Role in the phenotype of | Assessed | HGNC:9557 | ENSG00000197170 | 604450 | 17q24.2 | proteasome 26S subunit, non-ATPase 12 | 28465847[PMID]_29696806[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28465847[PMID]_29696806[PMID] |
| Cases/families | 19 cases | Worldwide | Case(s) | Validated | 29696806[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
47 annotations · validated 2019-03-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0001956 | Truncal obesity | |
| Frequent (79-30%) | ||
| HP:0003028 | Abnormality of the ankles | |
| HP:0003019 | Abnormality of the wrist | |
| HP:0000739 | Anxiety | |
| HP:0000708 | Atypical behavior | |
| HP:0000475 | Broad neck | |
| HP:0002967 | Cubitus valgus | |
| HP:0000490 | Deeply set eye | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001531 | Failure to thrive in infancy | |
| HP:0011968 | Feeding difficulties | |
| HP:0008935 | Generalized neonatal hypotonia | |
| HP:0000316 | Hypertelorism | |
| HP:0010794 | Impaired visuospatial constructive cognition | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0011800 | Midface retrusion | |
| HP:0000545 | Myopia | |
| HP:0008607 | Progressive conductive hearing impairment | |
| HP:0000508 | Ptosis | |
| HP:0000403 | Recurrent otitis media | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0000322 | Short philtrum | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000692 | Tooth malposition | |
| HP:0000325 | Triangular face | |
| HP:0009824 | Upper limb undergrowth | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0000718 | Aggressive behavior | |
| HP:0011304 | Broad thumb | |
| HP:0000712 | Emotional lability | |
| HP:0000738 | Hallucinations | |
| HP:0200053 | Hemihypotrophy of lower limb | |
| HP:0000362 | Otosclerosis | |
| HP:0011648 | Patent ductus arteriosus after birth at term | |
| HP:0001657 | Prolonged QT interval | |
| HP:0000869 | Secondary amenorrhea | |
| Very rare (<4-1%) | ||
| HP:0012683 | Pineal cyst | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0000076 | Vesicoureteral reflux | |
| Excluded (0%) | ||
| HP:0000824 | Decreased response to growth hormone stimulation test | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 22166941[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/529962
- This record as JSON: /data/d/529962.json