ORPHA:709
Peters plus syndrome
Synonyms: Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome · Peters anomaly with short limb dwarfism
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Antenatal, Neonatal
- Status
- active
Peters plus syndrome is an autosomal recessively inherited syndromic developmental defect of the eye characterized by a variable phenotype including Peters anomaly and other anterior chamber eye anomalies, short limbs, limb abnormalities (i.e. rhizomelia and brachydactyly), characteristic facial features (upper lip with cupid bow, short palpebral fissures), cleft lip/palate, and mild to severe developmental delay/intellectual disability. Other associated abnormalities reported in some patients include congenital heart defects (i.e. hypoplastic left heart, absence of right pulmonary vein, bicuspid pulmonary valve), genitourinary anomalies (hydronephrosis, renal hypoplasia, renal and ureteral duplication, multicystic dysplastic kidneys, glomerulocystic kidneys) and congenital hypothyroidism.
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Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Peters plus syndrome | Krause-Kivlin syndrome · Krause-van Schooneveld-Kivlin syndrome · Peters anomaly with short limb dwarfism |
| fr | Syndrome de Peters plus | Syndrome d'anomalie de Peters-nanisme · Syndrome de Krause-Kivlin · Syndrome de Krause-van Schooneveld-Kivlin |
| de | Peters plus-Syndrom | Krause-Kivlin-Syndrom · Krause-van Schooneveld-Kivlin-Syndrom · Peters-Anomalie - Kleinwuchs |
| es | Síndrome de Peters plus | Anomalía de Peter con enanismo de extremidades cortas · Síndrome de Krause-Kivlin · Síndrome de Krause-van Schooneveld-Kivlin |
| it | Sindrome di Peters plus | Anomalia di Peters con nanismo ad arti corti · Sindrome di Krause-Kivlin · Sindrome di Krause-van Schooneveld-Kivlin |
| nl | Syndroom van Peters-plus | Anomalie van Peters met dwerggroei met korte ledematen · Syndroom van Krause-Kivlin · Syndroom van Krause-van Schooneveld-Kivlin |
| pt | Síndrome Peters-plus | Anomalia de Peters com nanismo de membros curtos |
| pl | Zespół Petersa-plus | Anomalia Petersa z karłowatością krótkich kończyn · Zespół Krause'a i Kivlina · Zespół Krause'a, van Schoonevelda i Kivlina |
| cs | Syndrom Peters-plus | Krauseho-Kivlinův syndrom · Krauseho-van Schooneveldův-Kivlinův syndrom · Petersova anomálie s trpaslictvím s krátkými končetinami · Krause-Kivlinův syndrom · Krause-van Schooneveld-Kivlinův syndrom |
| uk | Синдром Петерса плюс | Синдром Краузе-Ківліна · Синдром Краузе-ван-Шуневельда-Ківліна · Аномалія Петерса з карликовістю коротких кінцівок |
| zh | Peters Plus综合征 | Peters畸形伴短肢侏儒 |
| tr | Peters Plus sendromu | Krause-Kivlin sendromu · Krause-van Schooneveld-Kivlin sendromu · Kısa ekstremite cücelikli Peters anomalisi |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 261540 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD21.Y | NTBT | index | validated |
| MONDO | 0009856 | E | validated | |
| MeSH | C537617 | E | validated | |
| UMLS | C0796012 | E | validated | |
| GARD | 8422 | 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 (8):
- ORPHA:519276Anterior segment developmental anomaly with extraocular manifestations
rare developmental anomalies during embryogenesis; rare genetic diseases; rare ophthalmic disorders - ORPHA:371183Congenital disorder of glycosylation with cardiac malformation as a major feature
rare developmental anomalies during embryogenesis; rare cardiac malformations; rare genetic diseases - ORPHA:371047Congenital disorder of glycosylation with neurological involvement
rare genetic diseases; rare neurological diseases - ORPHA:309505Disorder of fucoglycosan synthesis
rare inborn errors of metabolism; rare genetic diseases - ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:98644Metabolic disease with cataract
rare genetic diseases; rare ophthalmic disorders - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:98638Rare disease with glaucoma as a major feature
rare genetic diseases; rare ophthalmic disorders
No children.
Codes that Orphanet moved or referred to this one:
- ORPHA:3105Robinow-like syndrome moved to · inactive
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Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| B3GLCT | Disease-causing germline mutation(s) in | Assessed | HGNC:20207 | ENSG00000187676 | 610308 | 13q12.3 | beta 3-glucosyltransferase | 20301637[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 100 cases | Worldwide | Case(s) | Validated | 20301637[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_20301637[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.
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HPO phenotypes
83 annotations · validated 2016-06-01| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007833 | Anterior chamber synechiae | |
| HP:0000248 | Brachycephaly | |
| HP:0001156 | Brachydactyly | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0007957 | Corneal opacity | |
| HP:0008873 | Disproportionate short-limb short stature | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0000501 | Glaucoma | |
| HP:0001263 | Global developmental delay | |
| HP:0001249 | Intellectual disability | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000276 | Long face | |
| HP:0000343 | Long philtrum | |
| HP:0000347 | Micrognathia | |
| HP:0002983 | Micromelia | |
| HP:0000659 | Peters anomaly | Diagnostic criterion |
| HP:0000311 | Round face | |
| HP:0002000 | Short columella | |
| HP:0001773 | Short foot | |
| HP:0000470 | Short neck | |
| HP:0001831 | Short toe | |
| HP:0000219 | Thin upper lip vermilion | |
| Frequent (79-30%) | ||
| HP:0001671 | Abnormal cardiac septum morphology | |
| HP:0004414 | Abnormality of the pulmonary artery | |
| HP:0000504 | Abnormality of vision | |
| HP:0000518 | Cataract | |
| HP:0000175 | Cleft palate | |
| HP:0000204 | Cleft upper lip | |
| HP:0000028 | Cryptorchidism | |
| HP:0001558 | Decreased fetal movement | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0002007 | Frontal bossing | |
| HP:0000238 | Hydrocephalus | |
| HP:0000316 | Hypertelorism | |
| HP:0000047 | Hypospadias | |
| HP:0000482 | Microcornea | |
| HP:0008569 | Microtia, second degree | |
| HP:0000639 | Nystagmus | |
| HP:0008897 | Postnatal growth retardation | |
| HP:0004467 | Preauricular pit | |
| HP:0000384 | Preauricular skin tag | |
| HP:0011220 | Prominent forehead | |
| HP:0001642 | Pulmonic stenosis | |
| HP:0012745 | Short palpebral fissure | |
| HP:0004322 | Short stature | |
| HP:0001770 | Toe syndactyly | |
| HP:0000582 | Upslanted palpebral fissure | |
| HP:0000465 | Webbed neck | |
| HP:0000687 | Widely spaced teeth | |
| Occasional (29-5%) | ||
| HP:0002023 | Anal atresia | |
| HP:0000830 | Anterior hypopituitarism | |
| HP:0000463 | Anteverted nares | |
| HP:0007370 | Aplasia/Hypoplasia of the corpus callosum | |
| HP:0002120 | Cerebral cortical atrophy | |
| HP:0000060 | Clitoral hypoplasia | |
| HP:0000405 | Conductive hearing impairment | |
| HP:0000851 | Congenital hypothyroidism | |
| HP:0005280 | Depressed nasal bridge | |
| HP:0000126 | Hydronephrosis | |
| HP:0000013 | Hypoplasia of the uterus | |
| HP:0000023 | Inguinal hernia | |
| HP:0100819 | Intestinal fistula | |
| HP:0000252 | Microcephaly | |
| HP:0000003 | Multicystic kidney dysplasia | |
| HP:0000648 | Optic atrophy | |
| HP:0001643 | Patent ductus arteriosus | |
| HP:0001561 | Polyhydramnios | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0000075 | Renal duplication | |
| HP:0008678 | Renal hypoplasia/aplasia | |
| HP:0008905 | Rhizomelia | |
| HP:0000960 | Sacral dimple | |
| HP:0003196 | Short nose | |
| HP:0003298 | Spina bifida occulta | |
| HP:0001537 | Umbilical hernia | |
| HP:0000073 | Ureteral duplication | |
| HP:0002119 | Ventriculomegaly | |
| HP:0000505 | Visual impairment | |
| HP:0006610 | Wide intermamillary distance | |
| HP:0000154 | Wide mouth | |
| Very rare (<4-1%) | ||
| HP:0030968 | Abnormal pulmonary vein morphology | |
| HP:0005182 | Bicuspid pulmonary valve | |
| HP:0004383 | Hypoplastic left heart | |
Run the differential on the 12 obligate / very frequent terms
Annotation source: 18798333[PMID]_19796186[PMID]_3189394[PMID]_1856836[PMID]_12119218[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/709
- This record as JSON: /data/d/709.json