9q33.3q34.11 microdeletion syndrome
Synonyms: Del(9)(q33.3q34.11) · Deletion 9q33.3q34.11 · Monosomy 9q33.3q34.11
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable
- Age of onset
- Childhood, Infancy
- Status
- active
A partial monosomy of the long arm of chromosome 9 characterized by intellectual disability, developmental delay with pronounced speech delay, short stature, and muscular hypotonia. Common craniofacial dysmorphic features consist of microcephaly, prominent forehead, round face, arched eyebrows, upslanting palpebral fissures, strabismus, short nose, and thin upper lip. Other clinical findings include epilepsy, ataxia, unspecific brain MRI findings, early-onset primary dystonia, nail dysplasia, and bone malformations, in particular patellar abnormalities, epistaxis, and cutaneous-mucous telangiectasias.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | 9q33.3q34.11 microdeletion syndrome | Del(9)(q33.3q34.11) · Deletion 9q33.3q34.11 · Monosomy 9q33.3q34.11 |
| fr | Syndrome de microdélétion 9q33.3q34.11 | Del(9)(q33.3q34.11) · Délétion 9q33.3q34.11 · Monosomie 9q33.3q34.11 |
| de | Mikrodeletionssyndrom 9q33.3q34.11 | Del(9)(q33.3q34.11) · Deletion 9q33.3q34.11 · Monosomie 9q33.3q34.11 |
| es | Síndrome de microdeleción 9q33.3q34.11 | Del(9)(q33.3q34.11) · Deleción 9q33.3q34.11 · Monosomía 9q33.3q34.11 |
| it | Sindrome da microdelezione 9q33.3q34.11 | |
| nl | 9q33.3q34.11-microdeletiesyndroom | Deletie 9q33.3q34.11 · Monosomie 9q33.3q34.11 · Del(9)(q33.3q34.11) |
| pt | Síndrome de microdeleção 9q33.3q34.11 | |
| pl | Zespół mikrodelecji 9q33.3q34.11 | = en |
| cs | Mikrodeleční syndrom 9q33.3q34.11 | = en |
| uk | Синдром мікроделеції 9q33.3q34.11 | Del(9)(q33.3q34.11) · Делеція 9q33.3q34.11 · Моносомія 9q33.3q34.11 |
| zh | 9q33.3q34.11微缺失综合征 | 9q33.3q34.11单体 |
| tr | 9q33.3q34.11 mikrodelesyon sendromu | Del(9)(q33.3q34.11) · Delesyon 9q33.3q34.11 · Monozomi 9q33.3q34.11 |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0044641 | E | validated | |
| UMLS | C5680085 | 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 (5):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - 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:262074Partial deletion of the long arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:79370Syndromic nail anomaly
rare genetic diseases; rare skin diseases
No children.
Genes
2 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| LMX1B | Role in the phenotype of | Assessed | HGNC:6654 | ENSG00000136944 | 602575 | 9q33.3 | LIM homeobox transcription factor 1 beta | 26395556[PMID] |
| STXBP1 | Role in the phenotype of | Assessed | HGNC:11444 | ENSG00000136854 | 602926 | 9q34.11 | syntaxin binding protein 1 | 26395556[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 4 cases | Worldwide | Case(s) | Validated | 26395556[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_26395556[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
53 annotations · validated 2020-01-14| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0200005 | Abnormal shape of the palpebral fissure | |
| HP:0008936 | Axial hypotonia | |
| HP:0011822 | Broad chin | |
| HP:0000414 | Bulbous nose | |
| HP:0000750 | Delayed speech and language development | |
| HP:0002015 | Dysphagia | |
| HP:0000293 | Full cheeks | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0002003 | Large forehead | |
| HP:0001270 | Motor delay | |
| HP:0002164 | Nail dysplasia | |
| HP:0002999 | Patellar dislocation | |
| HP:0000311 | Round face | |
| HP:0001250 | Seizure | |
| HP:0000233 | Thin vermilion border | |
| Frequent (79-30%) | ||
| HP:0002099 | Asthma | |
| HP:0000483 | Astigmatism | |
| HP:0000708 | Atypical behavior | |
| HP:0010665 | Bilateral coxa valga | |
| HP:0002019 | Constipation | |
| HP:0000421 | Epistaxis | |
| HP:0006471 | Fixed elbow flexion | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0002540 | Inability to walk | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0003065 | Patellar hypoplasia | |
| HP:0001357 | Plagiocephaly | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000486 | Strabismus | |
| HP:0001762 | Talipes equinovarus | |
| HP:0000506 | Telecanthus | |
| Occasional (29-5%) | ||
| HP:0010720 | Abnormal hair pattern | |
| HP:0002518 | Abnormal periventricular white matter morphology | |
| HP:0000377 | Abnormal pinna morphology | |
| HP:0000077 | Abnormality of the kidney | |
| HP:0000248 | Brachycephaly | |
| HP:0006855 | Cerebellar vermis atrophy | |
| HP:0000028 | Cryptorchidism | |
| HP:0002188 | Delayed CNS myelination | |
| HP:0100633 | Esophagitis | |
| HP:0000369 | Low-set ears | |
| HP:0000054 | Micropenis | |
| HP:0006443 | Patellar aplasia | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0000470 | Short neck | |
| HP:0000954 | Single transverse palmar crease | |
| HP:0000046 | Small scrotum | |
| HP:0001285 | Spastic tetraparesis | |
| HP:0001009 | Telangiectasia | |
| HP:0011825 | Tented philtrum | |
| HP:0000465 | Webbed neck | |
| HP:0000445 | Wide nose | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 26395556[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/495818
- This record as JSON: /data/d/495818.json