Distal deletion 9p syndrome
Synonyms: Distal monosomy 9p · Monosomy 9pter · Telomeric deletion 9p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Infancy, Neonatal
- Status
- active
Distal monosomy 9p is a rare chromosomal anomaly syndrome, resulting from a partial deletion of the short arm of chromosome 9, with a highly variable phenotype typically characterized by intellectual disability, craniofacial dysmorphism (trigonocephaly, upslanting palpebral fissures, hypoplastic supraorbital ridges), abnormal digits (long middle phalanges with short distal phalanges), as well as frequent association with genitourinary abnormalities (cryptorchidism, hypospadias, ambiguous genitalia, 46,XY testicular dysgenesis). Congenital hypothyroidism and cardiovascular defects have been reported in some cases. Patients present an increased risk for gonadoblastoma.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Distal deletion 9p syndrome | Distal monosomy 9p · Monosomy 9pter · Telomeric deletion 9p |
| fr | Syndrome de délétion distale 9p | Délétion 9pter · Délétion télomérique 9p · Monosomie 9pter · Monosomie distale 9p |
| de | Distale Deletion 9p | Distale Monosomie 9p · Monosomie 9pter · Telomere Deletion 9p |
| es | Síndrome de deleción terminal 9p | Monosomía 9pter · Monosomía terminal 9p |
| it | Sindrome delezione 9p distale | Delezione 9p telomerica · Monosomia 9p distale · Monosomia 9pter |
| nl | Distale deletie 9p-syndroom | Distale monosomie 9p · Monosomie 9pter · Telomerische deletie 9p |
| pt | Deleção distal 9p | Deleção telomérica 9p · Monossomia 9pter · Monossomia distal 9p |
| pl | Zespół delecji dystalnej 9p | Dystalna delecja 9p · Monosomia 9pter |
| cs | Distální monozomie 9p | Distální delece 9p · Monozomie 9pter · Telomerická delece 9p |
| uk | Дистальна делеція 9p | Дистальна моносомія 9p · Моносомія 9pter · Делеція теломерної ділянки 9p |
| zh | 9号染色体短臂远端单倍体 | 9号染色体短臂远端单倍体 |
| tr | Distal monozomi 9p | Monozomi 9pter · Distal delesyon 9p · Telomerik delesyon 9p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| MONDO | 0015605 | E | validated | |
| MeSH | C538025 | E | validated | |
| UMLS | C0265425 | 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:261929Partial deletion of the short arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:98087Syndrome with 46,XY difference of sex development
rare developmental anomalies during embryogenesis; rare genetic diseases; rare urogenital diseases; rare endocrine diseases - ORPHA:325638Syndrome with difference of sex development of gynecological interest
rare genetic diseases; rare gynecological and obstetric diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 89 cases | Worldwide | Case(s) | Validated | 23824832[PMID]_24330994[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_23824832[PMID]_24330994[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
27 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0009738 | Abnormality of the antihelix | |
| HP:0001263 | Global developmental delay | |
| HP:0002705 | High, narrow palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0008551 | Microtia | |
| HP:0011800 | Midface retrusion | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000520 | Proptosis | |
| HP:0000470 | Short neck | |
| HP:0003196 | Short nose | |
| HP:0000243 | Trigonocephaly | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000431 | Wide nasal bridge | |
| Frequent (79-30%) | ||
| HP:0011039 | Abnormal helix morphology | |
| HP:0000164 | Abnormality of the dentition | |
| HP:0009906 | Aplasia/Hypoplasia of the earlobes | |
| HP:0001156 | Brachydactyly | |
| HP:0100625 | Enlarged thorax | |
| HP:0000286 | Epicanthus | |
| HP:0100790 | Hernia | |
| HP:0000059 | Hypoplastic labia majora | |
| HP:0000047 | Hypospadias | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000175 | Cleft palate | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/1642
- This record as JSON: /data/d/1642.json