ORPHA:508488
8q24.3 microdeletion syndrome
Synonyms: Del(8)(q24.3) · Deletion 8q24.3 · Monosomy 8q24.3
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Antenatal, Neonatal
- Status
- active
A multiple congenital anomalies/dysmorphic - intellectual disability syndrome characterized by feeding problems, growth retardation, microcephaly, developmental delay, digital and vertebral anomalies, joint laxity/dislocation, cardiac and renal defects, and dysmorphic facial features (including plagiocephaly, prominent forehead, bitemporal narrowing, bilateral coloboma, epicanthal folds, malformations of the outer and middle ear, wide nasal bridge, anteverted nares, prominent and bulbous nose tip, long philtrum, thin lips, high and narrow palate, micrognathia with prognathism/retrognathism, full cheeks, and short, broad neck). Additional variable manifestations include obstructive apneas, recurrent pneumonia, and seizures.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 8q24.3 microdeletion syndrome | Del(8)(q24.3) · Deletion 8q24.3 · Monosomy 8q24.3 |
| fr | Syndrome de microdélétion 8q24.3 | Del(8)(q24.3) · Monosomie 8q24.3 |
| de | Mikrodeletionssyndrom 8q24.3 | Del(8)(q24.3) · Deletion 8q24.3 · Monosomie 8q24.3 |
| es | Síndrome de microdeleción 8q24.3 | Del(8)(q24.3) · Deleción 8q24.3 · Monosomía 8q24.3 |
| it | Sindrome da microdelezione 8q24.3 | Del(8)(q24.3) · Delezione 8q24.3 · Monosomia 8q24.3 |
| nl | 8q24.3-microdeletiesyndroom | Del(8)(q24.3) · Deletie 8q24.3 · Monosomie 8q24.3 |
| pt | Síndrome de microdeleção 8q24.3 | |
| pl | Zespół mikrodelecji 8q24.3 | Del(8)(q24.3) · Delecja 8q24.3 · Monosomia 8q24.3 · zespół Verheij |
| cs | Syndrom delece 8q24.3 | Del(8)(q24.3) · Delece 8q24.3 · Monozomie 8q24.3 · Verheijové syndrom |
| uk | Синдром мікроделеції 8q24.3 | Del(8)(q24.3) · Делеція 8q24.3 · Моносомія 8q24.3 · Синдром Вергея |
| zh | 染色体8q24.3微缺失综合征 | Verheij综合征 |
| tr | 8q24.3 mikrodelesyon sendromu | Del(8)(q24.3) · Delesyon 8q24.3 · Monozomi 8q24.3 · Verheij sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 615583 | NTBT | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.80 | NTBT | attributed | validated |
| MONDO | 0014263 | E | validated | |
| UMLS | C3810023 | E | validated | |
| GARD | 12814 | 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 (7):
- ORPHA:183570Genetic malformation syndrome with short stature
rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:139021Malformation syndrome with short stature
rare developmental anomalies during embryogenesis - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:262065Partial deletion of the long arm of chromosome 8 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:156532Rare syndrome with cardiac malformations
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:93547Syndromic renal or urinary tract malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare renal diseases; rare transplant-related disorders
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| PUF60 | Role in the phenotype of | Assessed | HGNC:17042 | ENSG00000179950 | 604819 | 8q24.3 | poly(U) binding splicing factor 60 | 27804958[PMID] |
5
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 2 cases | Worldwide | Case(s) | Validated | 27804958[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27804958[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.
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HPO phenotypes
101 annotations · validated 2019-02-11| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0001263 | Global developmental delay | |
| HP:0002342 | Intellectual disability, moderate | |
| HP:0004322 | Short stature | |
| Frequent (79-30%) | ||
| HP:0001627 | Abnormal heart morphology | |
| HP:0001155 | Abnormality of the hand | |
| HP:0000463 | Anteverted nares | |
| HP:0010722 | Asymmetry of the ears | |
| HP:0000729 | Autistic behavior | |
| HP:0000455 | Broad nasal tip | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000286 | Epicanthus | |
| HP:0002474 | Expressive language delay | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0040019 | Finger clinodactyly | |
| HP:0000293 | Full cheeks | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0008081 | Pes valgus | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0007663 | Reduced visual acuity | |
| HP:0004220 | Short middle phalanx of the 5th finger | |
| HP:0000470 | Short neck | |
| HP:0000319 | Smooth philtrum | |
| HP:0000321 | Square face | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0000431 | Wide nasal bridge | |
| Occasional (29-5%) | ||
| HP:0002101 | Abnormal lung lobation | |
| HP:3000038 | Abnormality of cricoid cartilage | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0006695 | Atrioventricular canal defect | |
| HP:0007633 | Bilateral microphthalmos | |
| HP:0012584 | Bilateral renal hypoplasia | |
| HP:0009796 | Branchial cyst | |
| HP:0005306 | Capillary hemangioma | |
| HP:0000891 | Cervical ribs | |
| HP:0010289 | Cleft maxillary alveolar ridge | |
| HP:0001680 | Coarctation of aorta | |
| HP:0001674 | Complete atrioventricular canal defect | |
| HP:0001374 | Congenital hip dislocation | |
| HP:0000490 | Deeply set eye | |
| HP:0002015 | Dysphagia | |
| HP:0005176 | Dysplastic aortic valve | |
| HP:0010529 | Echolalia | |
| HP:0011755 | Ectopic posterior pituitary | |
| HP:0001738 | Exocrine pancreatic insufficiency | |
| HP:0000577 | Exotropia | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0002239 | Gastrointestinal hemorrhage | |
| HP:0001290 | Generalized hypotonia | |
| HP:0002283 | Global brain atrophy | |
| HP:0011332 | Hemifacial hypoplasia | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001385 | Hip dysplasia | |
| HP:0000752 | Hyperactivity | |
| HP:0002079 | Hypoplasia of the corpus callosum | |
| HP:0012304 | Hypoplastic aortic arch | |
| HP:0011406 | Infancy onset short-trunk short stature | |
| HP:0000023 | Inguinal hernia | |
| HP:0000527 | Long eyelashes | |
| HP:0100807 | Long fingers | |
| HP:0010511 | Long toe | |
| HP:0000744 | Low frustration tolerance | |
| HP:0011067 | Mesiodens | |
| HP:0002983 | Micromelia | |
| HP:0000308 | Microretrognathia | |
| HP:0010733 | Naevus flammeus of the eyelid | |
| HP:0000774 | Narrow chest | |
| HP:0000341 | Narrow forehead | |
| HP:0001562 | Oligohydramnios | |
| HP:0000609 | Optic nerve hypoplasia | |
| HP:0000300 | Oval face | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000767 | Pectus excavatum | |
| HP:0000125 | Pelvic kidney | |
| HP:0001763 | Pes planus | |
| HP:0011220 | Prominent forehead | |
| HP:0000817 | Reduced eye contact | |
| HP:0002098 | Respiratory distress | |
| HP:0000480 | Retinal coloboma | |
| HP:0001838 | Rocker bottom foot | |
| HP:0005484 | Secondary microcephaly | |
| HP:0001250 | Seizure | |
| HP:0009237 | Short 5th finger | |
| HP:0003097 | Short femur | |
| HP:0010109 | Short hallux | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0010609 | Skin tags | |
| HP:0001518 | Small for gestational age | |
| HP:0003298 | Spina bifida occulta | |
| HP:0000486 | Strabismus | |
| HP:0001883 | Talipes | |
| HP:0000574 | Thick eyebrow | |
| HP:0002943 | Thoracic scoliosis | |
| HP:0100033 | Tics | |
| HP:0001660 | Truncus arteriosus | |
| HP:0000122 | Unilateral renal agenesis | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0001629 | Ventricular septal defect | |
| HP:0000076 | Vesicoureteral reflux | |
Run the differential on the 3 obligate / very frequent terms
Annotation source: 3047248[PMID]_29738340[PMID]_28990276[PMID]_27804958[PMID]_26437074[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/508488
- This record as JSON: /data/d/508488.json