Tetrasomy 9p syndrome
Synonyms: Isochromosome 9p
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Antenatal, Neonatal
- Status
- active
Tetrasomy 9p is a rare autosomal anomaly characterized by pre- and postnatal growth retardation, psychomotor delay, mild to moderate intellectual disability, hypotonia, microcephaly, dysmorphic features (ocular hypertelorism, low-set, malformed ears, bulbous/beaked nose, microretrognathia, enophthalmos/micropthalmia, epicanthus, strabismus), cleft lip/palate, skeletal abnormalities (hypoplastic nails/distal phalanges, short stature, short neck, contractures), congenital heart defects, renal and urogenital malformations (renal hypoplasia, genital hypoplasia, cryptorchidism).
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Tetrasomy 9p syndrome | Isochromosome 9p |
| fr | Syndrome de tétrasomie 9p | Isochromosome 9p surnuméraire |
| de | Tetrasomie 9p | |
| es | Síndrome de tetrasomía 9p | Isocromosoma 9p |
| it | Sindrome tetrasomia 9p | Isocromosoma 9p |
| nl | Tetrasomie 9p-syndroom | Isochromosoom 9p |
| pt | Tetrassomia 9p | |
| pl | Zespół tetrasomii 9p | Izochromosom 9p |
| cs | Tetrazomie 9p | Izochromozom 9p |
| uk | Тетрасомія 9p | Ізохромосома 9p |
| zh | 9号染色体短臂四倍体 | 9号染色体短臂等臂 |
| tr | Tetrazomi 9p | İzokromozom 9p |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0018030 | E | validated | |
| MeSH | C538027 | E | validated | |
| UMLS | C0795832 | E | validated | |
| GARD | 42 | 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:262767Partial duplication/triplication 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
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 70 cases | Worldwide | Case(s) | Validated | ORPHANET_25847481[PMID]_25944096[PMID]_25951732[PMID]_26216333[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25847481[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
82 annotations · validated 2017-04-12| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0000363 | Abnormality of earlobe | |
| HP:0000646 | Amblyopia | |
| HP:0000444 | Convex nasal ridge | |
| HP:0000490 | Deeply set eye | |
| HP:0000750 | Delayed speech and language development | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0000347 | Micrognathia | |
| HP:0000545 | Myopia | |
| HP:0030434 | Pilomatrixoma | |
| HP:0000486 | Strabismus | |
| Occasional (29-5%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0001633 | Abnormal mitral valve morphology | |
| HP:0011044 | Abnormal number of permanent teeth | |
| HP:0000682 | Abnormality of dental enamel | |
| HP:0002143 | Abnormality of the spinal cord | |
| HP:0011467 | Absent gallbladder | |
| HP:0006710 | Aplasia/Hypoplasia of the clavicles | |
| HP:0001369 | Arthritis | |
| HP:0000193 | Bifid uvula | |
| HP:0007598 | Bilateral single transverse palmar creases | |
| HP:0005912 | Biliary atresia | |
| HP:0000414 | Bulbous nose | |
| HP:0000532 | Chorioretinal abnormality | |
| HP:0000175 | Cleft palate | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0000028 | Cryptorchidism | |
| HP:0001305 | Dandy-Walker malformation | |
| HP:0000678 | Dental crowding | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000286 | Epicanthus | |
| HP:0000577 | Exotropia | |
| HP:0012378 | Fatigue | |
| HP:0001290 | Generalized hypotonia | |
| HP:0040262 | Glue ear | |
| HP:0001528 | Hemihypertrophy | |
| HP:0000218 | High palate | |
| HP:0000238 | Hydrocephalus | |
| HP:0000126 | Hydronephrosis | |
| HP:0000882 | Hypoplastic scapulae | |
| HP:0000789 | Infertility | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000952 | Jaundice | |
| HP:0001373 | Joint dislocation | |
| HP:0000239 | Large fontanelles | |
| HP:0009099 | Median cleft palate | |
| HP:0000921 | Missing ribs | |
| HP:0005562 | Multiple renal cysts | |
| HP:0100614 | Myositis | |
| HP:0000639 | Nystagmus | |
| HP:0000798 | Oligozoospermia | |
| HP:0001302 | Pachygyria | |
| HP:0001701 | Pericarditis | |
| HP:0002126 | Polymicrogyria | |
| HP:0030880 | Raynaud phenomenon | |
| HP:0000010 | Recurrent urinary tract infections | |
| HP:0000110 | Renal dysplasia | |
| HP:0000960 | Sacral dimple | |
| HP:0001250 | Seizure | |
| HP:0000470 | Short neck | |
| HP:0200055 | Small hand | |
| HP:0030031 | Small toe | |
| HP:0001328 | Specific learning disability | |
| HP:0002725 | Systemic lupus erythematosus | |
| HP:0001762 | Talipes equinovarus | |
| Very rare (<4-1%) | ||
| HP:0000705 | Amelogenesis imperfecta | |
| HP:0000729 | Autistic behavior | |
| HP:0001651 | Dextrocardia | |
| HP:0011968 | Feeding difficulties | |
| HP:0000085 | Horseshoe kidney | |
| HP:0000752 | Hyperactivity | |
| HP:0000719 | Inappropriate behavior | |
| HP:0011646 | Juxtaductal coarctation of the aorta | |
| HP:0001339 | Lissencephaly | |
| HP:0000256 | Macrocephaly | |
| HP:0000054 | Micropenis | |
| HP:0001655 | Patent foramen ovale | |
| HP:0002092 | Pulmonary arterial hypertension | |
| HP:0002089 | Pulmonary hypoplasia | |
| HP:0000322 | Short philtrum | |
| HP:0001537 | Umbilical hernia | |
Annotation source: 4772080[PMID]_25847481[PMID]_22487875[PMID]_9781058[PMID]_16226972[PMID]_14735590[PMID]_26216333[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3310
- This record as JSON: /data/d/3310.json