ORPHA:884
Pallister-Killian syndrome
Synonyms: Isochromosome 12p mosaicism · Isochromosome 12p syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Not applicable, Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare chromosomal anomaly characterized by variable developmental delay with intellectual disability, epilepsy, pigmentary skin anomalies and characteristic facial features usually caused by mosaic tetrasomy of the short arm of chromosome 12. A wide range of pulmonary, cardiac, renal, gastrointestinal, genitourinary, ophtalmologic and auditory features are also associated.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pallister-Killian syndrome | Isochromosome 12p mosaicism · Isochromosome 12p syndrome |
| fr | Syndrome de Pallister-Killian | Isochromosome 12p en mosaïque · Isochromosome 12p surnuméraire |
| de | Pallister-Killian-Syndrom | Isochromosom 12p, überzähliges · Tetrasomie 12p-Mosaik |
| es | Síndrome de Pallister-Killian | Isocromosoma en mosaico 12p · Síndrome del isocromosoma 12p |
| it | Sindrome tetrasomia 12p | Isocromosoma 12p a mosaico · Sindrome di Pallister-Killian · Sindrome da isocromosoma 12p |
| nl | Syndroom van Pallister-Killian | Isochromosoom 12p-mozaïcisme · Isochromosoom 12p-syndroom |
| pt | Síndrome Pallister-Killian | Mosaicismo isocromossoma 12p · Síndrome isocromossoma 12p |
| pl | Zespół tetrasomii 12p | Mozaikowatość izochromosomu 12p · Zespół izochromosomu 12p · Zespół Pallistera i Killiana |
| cs | Tetrazomie 12p | Izochromozom 12p v mozaice · Syndrom izochromozomu 12p · Killianův-Pallisterův syndrom · Killian-Pallisterův syndrom |
| uk | Тетрасомія 12p | Мозаїчність ізохромосоми 12p · Синдром ізохромосоми 12p · Синдром Паллістера-Кілліана |
| zh | 12号染色体短臂四体型 | 12号染色体短臂嵌合等臂染色体 |
| tr | Tetrazomi 12p | İzokromozom 12p sendromu · Pallister-Killian sendromu · İzokromozom 12p mosaisizmi |
Definition in:
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Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 601803 | E | validated | |
| ICD-10 | Q99.8 | NTBT | attributed | validated |
| ICD-11 | LD7Y | NTBT | index | validated |
| MONDO | 0011146 | E | validated | |
| MeSH | C538105 | E | validated | |
| UMLS | C0265449 | E | validated | |
| GARD | 8421 | E | validated | |
| MedDRA | 10080297 | E | validated |
E exact · NTBT this ORPHAcode is narrower than the target · BTNT broader than the target · ND not decided.
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Classification
Preferential parent (Orphanet linearisation):
Parents in the classifications (6):
- ORPHA:166469Chromosomal anomaly with epilepsy as a major feature
rare genetic diseases; rare neurological diseases - ORPHA:93461Chromosomal disease with overgrowth
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:262658Partial duplication/triplication of the short arm of chromosome 12 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:117573Syndromic anorectal malformation
rare developmental anomalies during embryogenesis; rare genetic diseases; rare abdominal surgical diseases; rare transplant-related disorders - ORPHA:108979Syndromic diaphragmatic or abdominal wall malformation
rare developmental anomalies during embryogenesis; rare abdominal surgical diseases - ORPHA:180779Syndromic diaphragmatic or thoracic malformation
rare surgical thoracic diseases
No children.
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Genes
0 directOrphanet records no gene directly on this code.
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Prevalence at birth | 1-9 / 100 000 | 4 / 100 000 | Europe | Value and class | Validated | [EXPERT] |
| Point prevalence | Unknown | — | Worldwide | Class only | Validated | [EXPERT] |
Value is Orphadata's ValMoy: the mean estimate per 100 000 for prevalence and incidence, the number of cases or families for case reports.
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HPO phenotypes
29 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0004326 | Cachexia | |
| HP:0000684 | Delayed eruption of teeth | |
| HP:0002750 | Delayed skeletal maturation | |
| HP:0002714 | Downturned corners of mouth | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000966 | Hypohidrosis | |
| HP:0001252 | Hypotonia | |
| HP:0010864 | Intellectual disability, severe | |
| HP:0001382 | Joint hypermobility | |
| HP:0000343 | Long philtrum | |
| HP:0000508 | Ptosis | |
| HP:0001315 | Reduced tendon reflexes | |
| HP:0000470 | Short neck | |
| HP:0004322 | Short stature | |
| HP:0045075 | Sparse eyebrow | |
| HP:0008070 | Sparse hair | |
| HP:0000215 | Thick upper lip vermilion | |
| HP:0000219 | Thin upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0000463 | Anteverted nares | |
| HP:0000280 | Coarse facial features | |
| HP:0002007 | Frontal bossing | |
| HP:0000316 | Hypertelorism | |
| HP:0011220 | Prominent forehead | |
| HP:0003196 | Short nose | |
| HP:0000506 | Telecanthus | |
| HP:0000582 | Upslanted palpebral fissure | |
| Occasional (29-5%) | ||
| HP:0100736 | Abnormality of the soft palate | |
| HP:0002023 | Anal atresia | |
| HP:0000486 | Strabismus | |
Run the differential on the 12 obligate / very frequent terms
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/884
- This record as JSON: /data/d/884.json