Pierpont syndrome
Synonyms: Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal dominant
- Age of onset
- Infancy, Neonatal
- Status
- active
A rare multiple congenital anomalies/dysmorphic syndrome characterized by axial hypotonia after birth, prolonged feeding difficulties, moderate to severe global developmental delay, seizures (in particular absence seizures), fetal digital pads, distinctive plantar fat pads anteromedial to the heels, and deep palmar and plantar grooves. Over time, fat pads may become less prominent and disappear. Distinct craniofacial dysmorphic features include a broad face with high forehead, high anterior hairline, narrow palpebral fissures that take on a crescent moon shape when smiling, broad nasal bridge and tip with anteverted nostrils, mild midfacial hypoplasia, long, smooth philtrum, thin upper lip vermillion, small, widely spaced teeth, and flat occiput/microcephaly/brachycephaly.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Pierpont syndrome | Plantar lipomatosis-facial dysmorphism-developmental delay syndrome · Plantar lipomatosis-unusual facies-developmental delay syndrome |
| fr | Syndrome de Pierpont | Syndrome de lipomatose plantaire-dysmorphie faciale-retard de développement |
| de | Pierpont-Syndrom | Plantare Lipomatose-Gesichtsdysmorphien-Entwicklungsverzögerung-Syndrom · Plantare Lipomatose-ungewöhnliche Gesichtszüge-Entwicklungsverzögerung-Syndrom |
| es | Síndrome de Pierpont | Síndrome de lipomatosis plantar-dismorfia facial-retraso del desarrollo · Síndrome de lipomatosis plantar-facies inusual-retraso del desarrollo |
| it | Sindrome di Pierpont | |
| nl | Syndroom van Pierpont | Plantaire lipomatose - faciale dysmorfie - ontwikkelingsachterstand-syndroom · Plantaire lipomatose - ongewoon gelaat - ontwikkelingsachterstand-syndroom |
| pt | Síndrome de Pierpont | |
| pl | Zespół Pierpont | Zespół tłuszczkowatości podeszew stóp, niezwykłej twarzy i opóźnionego rozwoju · Zespół tłuszczkowatości podeszew stóp, dysmorfii twarzy i opóźnionego rozwoju |
| cs | Pierpontové syndrom | Syndrom zahrnující plantární lipomatózu, neobvyklou tvář a opoždění vývoje · Syndrom zahrnující plantární lipomatózu, faciální dysmorfismus a opoždění vývoje |
| uk | Синдром Пєрпона | Синдром підошовного ліпоматозу-лицевого дизморфізму- затримки розвитку · Синдром підошовного ліпоматозу - незвичайного обличчя - затримки розвитку |
| zh | 皮尔庞特综合征 | 足底脂肪瘤样病-面部畸形-发育迟缓综合征 |
| tr | Pierpont sendromu | Plantar lipomatozis-alışılmadık yüz-gelişme geriliği sendromu · Plantar lipomatoz-fasiyal dismorfizm-gelişme geriliği sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 602342 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| MONDO | 0011213 | E | validated | |
| MeSH | C566559 | E | validated | |
| UMLS | C1865644 | 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 (2):
- ORPHA:611327Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases
No children.
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| TBL1XR1 | Disease-causing germline mutation(s) in | Assessed | HGNC:29529 | ENSG00000177565 | 608628 | 3q26.32 | TBL1X/Y related 1 | 26769062[PMID]_28562391[PMId]_21834056[PMID] |
Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 7 cases | Worldwide | Case(s) | Validated | 28562391[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_28562391[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
48 annotations · validated 2020-01-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0007552 | Abnormal subcutaneous fat tissue distribution | |
| HP:0006191 | Deep palmar crease | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0001252 | Hypotonia | |
| HP:0001249 | Intellectual disability | |
| HP:0045025 | Narrow palpebral fissure | |
| HP:0001763 | Pes planus | |
| HP:0000470 | Short neck | |
| HP:0012811 | Wide nasal ridge | |
| HP:0000687 | Widely spaced teeth | |
| Frequent (79-30%) | ||
| HP:0100872 | Abnormality of the plantar skin of foot | |
| HP:0007367 | Atrophy/Degeneration affecting the central nervous system | |
| HP:0000248 | Brachycephaly | |
| HP:0410263 | Brain imaging abnormality | |
| HP:0000289 | Broad philtrum | |
| HP:0000490 | Deeply set eye | |
| HP:0007605 | Excessive wrinkling of palmar skin | |
| HP:0000365 | Hearing impairment | |
| HP:0000348 | High forehead | |
| HP:0000316 | Hypertelorism | |
| HP:0011341 | Long upper lip | |
| HP:0000358 | Posteriorly rotated ears | |
| HP:0011451 | Primary microcephaly | |
| HP:0001212 | Prominent fingertip pads | |
| HP:0002650 | Scoliosis | |
| HP:0009381 | Short finger | |
| HP:0001831 | Short toe | |
| HP:0001518 | Small for gestational age | |
| HP:0000319 | Smooth philtrum | |
| HP:0000486 | Strabismus | |
| HP:0000506 | Telecanthus | |
| HP:0000233 | Thin vermilion border | |
| HP:0009909 | Uplifted earlobe | |
| HP:0006610 | Wide intermamillary distance | |
| Occasional (29-5%) | ||
| HP:0002536 | Abnormal cortical gyration | |
| HP:0001344 | Absent speech | |
| HP:0002308 | Chiari malformation | |
| HP:0000028 | Cryptorchidism | |
| HP:0009890 | High anterior hairline | |
| HP:0001382 | Joint hypermobility | |
| HP:0000400 | Macrotia | |
| HP:0000272 | Malar flattening | |
| HP:0000482 | Microcornea | |
| HP:0000568 | Microphthalmia | |
| HP:0012043 | Pendular nystagmus | |
| HP:0011344 | Severe global developmental delay | |
| HP:0000219 | Thin upper lip vermilion | |
| HP:0002119 | Ventriculomegaly | |
Run the differential on the 10 obligate / very frequent terms
Annotation source: 21834056[PMID]_26769062[PMID]_28562391[PMID]_30365874[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/487825
- This record as JSON: /data/d/487825.json