7q31 microdeletion syndrome
Synonyms: Del(7)(q31) · Monosomy 7q31
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Infancy, Neonatal
- Status
- active
7q31 microdeletion syndrome is a rare chromosomal anomaly characterized by speech and language disorder, predominantly presenting as an apraxia of speech, sometimes associated with oral motor dyspraxia, dysarthria, receptive and expressive language disorder, and hearing loss. Individuals with larger deletions in this region have also been reported to display intellectual disability and autism.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 7q31 microdeletion syndrome | Del(7)(q31) · Monosomy 7q31 |
| fr | Syndrome de microdélétion 7q31 | Del(7)(q31) · Monosomie 7q31 |
| de | Mikrodeletionssyndrom 7q31 | Del(7)(q31) · Monosomie 7q31 |
| es | Síndrome de microdeleción 7q31 | Del(7)(q31) · Monosomía 7q31 |
| it | Sindrome da microdelezione 7q31 | Del(7)(q31) · Monosomia 7q31 |
| nl | 7q31-microdeletiesyndroom | Del(7)(q31) · Monosomie 7q31 |
| pt | Síndrome de microdeleção 7q31 | Monossomia 7q31 |
| pl | Zespół mikrodelecji 7q31 | Del(7)(q31) · Monosomia 7q31 |
| cs | Syndrom mikrodelece 7q31 | Del(7)(q31) · Monozomie 7q31 |
| uk | Синдром мікроделеції 7q31 | Del(7)(q31) · Моносомія 7q31 |
| zh | 染色体7q31微缺失综合征 | 7q31单体 |
| tr | 7q31 mikrodelesyon sendromu | Del (7) (q31) · Monozomi 7q31 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.70 | NTBT | index | validated |
| MONDO | 0016656 | E | validated | |
| UMLS | C4750783 | 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 (2):
- ORPHA:262056Partial deletion of the long arm of chromosome 7 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:211053Specific language disorder
rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| FOXP2 | Role in the phenotype of | Assessed | HGNC:13875 | ENSG00000128573 | 605317 | 7q31.1 | forkhead box P2 | 17330859[PMID]_22144704[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 20 cases | Worldwide | Case(s) | Validated | 27075776[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_27075776[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
50 annotations · validated 2023-01-17| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0410018 | Recurrent ear infections | |
| HP:0011098 | Speech apraxia | |
| Occasional (29-5%) | ||
| HP:0025160 | Abnormal temper tantrums | |
| HP:0002167 | Abnormality of speech or vocalization | |
| HP:0012146 | Abnormality of von Willebrand factor | |
| HP:0002099 | Asthma | |
| HP:0001631 | Atrial septal defect | |
| HP:0000729 | Autistic behavior | |
| HP:0008936 | Axial hypotonia | |
| HP:0011474 | Childhood onset sensorineural hearing impairment | |
| HP:0040022 | Clinodactyly of the 2nd finger | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0001260 | Dysarthria | |
| HP:0002015 | Dysphagia | |
| HP:0011388 | Enlarged cochlear aqueduct | |
| HP:0010677 | Enuresis nocturna | |
| HP:0000286 | Epicanthus | |
| HP:0020045 | Esodeviation | |
| HP:0012023 | Galactosuria | |
| HP:0002020 | Gastroesophageal reflux | |
| HP:0000752 | Hyperactivity | |
| HP:0001611 | Hypernasal speech | |
| HP:0000316 | Hypertelorism | |
| HP:0008586 | Hypoplasia of the cochlea | |
| HP:0000327 | Hypoplasia of the maxilla | |
| HP:0040326 | Hypoplasia of the olfactory bulb | |
| HP:0011382 | Hypoplasia of the semicircular canal | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000343 | Long philtrum | |
| HP:0000369 | Low-set ears | |
| HP:0000256 | Macrocephaly | |
| HP:0011470 | Nasogastric tube feeding in infancy | |
| HP:0012758 | Neurodevelopmental delay | |
| HP:0011648 | Patent ductus arteriosus after birth at term | |
| HP:0001357 | Plagiocephaly | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0000448 | Prominent nose | |
| HP:0002205 | Recurrent respiratory infections | |
| HP:0002650 | Scoliosis | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000736 | Short attention span | |
| HP:0012745 | Short palpebral fissure | |
| HP:0003202 | Skeletal muscle atrophy | |
| HP:0000506 | Telecanthus | |
| HP:0000473 | Torticollis | |
| HP:0000154 | Wide mouth | |
| HP:0012811 | Wide nasal ridge | |
Annotation source: 22106036[PMID]_34490154[PMID]_35702019[PMID]_32885567[PMID]_30294678[PMID]_27075776[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/251061
- This record as JSON: /data/d/251061.json