Monosomy 9p syndrome
Synonyms: 9p deletion syndrome · 9p- syndrome · Alfi syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Monosomy 9p is a rare chromosomal anomaly characterized by psychomotor developmental delay, facial dysmorphism (trigonocephaly, midface hypoplasia, upslanting palpebral fissures, dysplastic small ears, flat nasal bridge with anteverted nostrils and long philtrum, micrognathia, choanal atresia, short neck), single umbilical artery, omphalocele, inguinal or umbilical hernia, genital abnormalities (hypospadia, cryptorchidism), muscular hypotonia and scoliosis.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Monosomy 9p syndrome | 9p deletion syndrome · 9p- syndrome · Alfi syndrome |
| fr | Syndrome de monosomie 9p | Syndrome 9p- · Syndrome d'Alfi · Syndrome de délétion 9p |
| de | Monosomie 9p | 9p-Syndrom · Alfi-Syndrom |
| es | Síndrome de monosomía 9p | Síndrome 9p- · Síndrome de Alfi · Síndrome de deleción 9p |
| it | Sindrome monosomia 9p | Sindrome delezione 9p · Sindrome 9p- · Sindrome di Alfi |
| nl | Monosomie 9p-syndroom | 9p-deletiesyndroom · 9p-syndroom · Syndroom van Alfi |
| pt | Monossomia 9p | |
| pl | Zespół monosomii 9p | Zespół 9p · Zespół Alfiego · Zespół delecji 9p |
| cs | Monozomie 9p | 9p-syndrom · Alfi syndrom · 9p deleční syndrom |
| uk | Моносомія 9p | Синдром делеції 9p · 9p-синдром · Синдром Альфі |
| zh | 9号染色体短臂单体 | 9号染色体短臂缺失综合征 |
| tr | Monozomi 9p | 9p- sendromu · Alfi sendromu · 9p delesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 158170 | E | validated | |
| ICD-10 | Q93.5 | NTBT | attributed | validated |
| ICD-11 | LD44.91 | NTBT | index | validated |
| MONDO | 0008013 | E | validated | |
| MeSH | C538024 | E | validated | |
| UMLS | C0795830 | E | validated | |
| GARD | 3773 | 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 (1):
- ORPHA:261929Partial deletion of the short arm of chromosome 9 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases
No children.
Genes
0 directOrphanet records no gene directly on this code.
Prevalence and incidence
0 recordsNo prevalence record in this release.
HPO phenotypes
58 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007477 | Abnormal dermatoglyphics | |
| HP:0009738 | Abnormality of the antihelix | |
| HP:0009892 | Anotia | |
| HP:0000463 | Anteverted nares | |
| HP:0000581 | Blepharophimosis | |
| HP:0000248 | Brachycephaly | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0001263 | Global developmental delay | |
| HP:0000218 | High palate | |
| HP:0000316 | Hypertelorism | |
| HP:0001249 | Intellectual disability | |
| HP:0000343 | Long philtrum | |
| HP:0002162 | Low posterior hairline | |
| HP:0000369 | Low-set ears | |
| HP:0000272 | Malar flattening | |
| HP:0000347 | Micrognathia | |
| HP:0008551 | Microtia | |
| HP:0009623 | Proximal placement of thumb | |
| HP:0000470 | Short neck | |
| HP:0001816 | Thin nail | |
| HP:0000243 | Trigonocephaly | |
| HP:0000465 | Webbed neck | |
| HP:0006610 | Wide intermamillary distance | |
| Frequent (79-30%) | ||
| HP:0000164 | Abnormality of the dentition | |
| HP:0001850 | Abnormality of the tarsal bones | |
| HP:0000062 | Ambiguous genitalia | |
| HP:0000028 | Cryptorchidism | |
| HP:0000286 | Epicanthus | |
| HP:0002553 | Highly arched eyebrow | |
| HP:0001276 | Hypertonia | |
| HP:0000047 | Hypospadias | |
| HP:0001252 | Hypotonia | |
| HP:0001376 | Limitation of joint mobility | |
| HP:0000252 | Microcephaly | |
| HP:0000160 | Narrow mouth | |
| HP:0000639 | Nystagmus | |
| HP:0002650 | Scoliosis | |
| HP:0001250 | Seizure | |
| HP:0003196 | Short nose | |
| HP:0000486 | Strabismus | |
| HP:0000664 | Synophrys | |
| HP:0000574 | Thick eyebrow | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0000772 | Abnormal rib morphology | |
| HP:0000925 | Abnormality of the vertebral column | |
| HP:0001274 | Agenesis of corpus callosum | |
| HP:0000413 | Atresia of the external auditory canal | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0000453 | Choanal atresia | |
| HP:0000175 | Cleft palate | |
| HP:0000776 | Congenital diaphragmatic hernia | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0100790 | Hernia | |
| HP:0000568 | Microphthalmia | |
| HP:0001162 | Postaxial hand polydactyly | |
| HP:0001362 | Skull defect | |
| HP:0000074 | Ureteropelvic junction obstruction | |
Run the differential on the 12 obligate / very frequent terms
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/261112
- This record as JSON: /data/d/261112.json