Contractures-developmental delay-Pierre Robin syndrome
Synonyms: 5q23 microdeletion syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Unknown
- Age of onset
- Antenatal, Neonatal
- Status
- active
A rare genetic multiple congenital anomalies/dysmorphic syndrome characterized by the association of Pierre Robin Sequence (congenital micrognathia and glossoptosis with airway obstruction and a U-shaped cleft of the soft palate) with joint contractures and developmental delay. Additional variable manifestations include talipes equinovarus, arachnodactyly, radioulnar synostosis, severe hip dysplasia, cardiac anomalies, facial dysmorphism such as crumpled ear helices, and ocular abnormalities, among others.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Contractures-developmental delay-Pierre Robin syndrome | 5q23 microdeletion syndrome |
| fr | Syndrome de Pierre Robin-contractures-retard de développement | Syndrome de microdélétion 5q23 |
| de | Kontrakturen-Entwicklungsverzögerung-Pierre Robin-Syndrom | Mikrodeletionssyndrom 5q23 |
| es | Síndrome de Pierre Robin-contracturas-retraso del desarrollo | Síndrome de microdeleción 5q23 |
| it | Contratture-ritardo dello sviluppo-sindrome di Pierre Robin | Sindrome da microdelezione 5q23 |
| nl | Contracturen - ontwikkelingsachterstand - Pierre Robin-syndroom | 5q23-microdeletiesyndroom |
| pt | Síndrome Pierre Robin-contraturas-perturbação do desenvolvimento | |
| pl | Zespół Pierre'a Robina, przykurczy i opóźnienia w rozwoju | Zespół mikrodelecji 5q23 |
| cs | Kontraktury, opožděný vývoj a Pierre Robinův syndrom | Mikrodeleční syndrom 5q23 |
| uk | Контрактури - затримка розвитку - синдром Пєра Робена | Синдром мікроделеції 5q23 |
| zh | 挛缩-发育迟缓-Pierre Robin综合征 | 5q23 微缺失综合征 |
| tr | Kontraktürler-gelişme geriliği-Pierre Robin sendromu | 5q23 mikrodelesyon sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0018571 | E | validated | |
| UMLS | C5680042 | 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 (4):
- 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 - ORPHA:262038Partial deletion of the long arm of chromosome 5 syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases - ORPHA:138047Pierre Robin syndrome associated with a chromosomal anomaly
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial 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 | 6 cases | Worldwide | Case(s) | Validated | 25195018[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_25195018[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
36 annotations · validated 2016-11-10| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000750 | Delayed speech and language development | |
| HP:0001270 | Motor delay | |
| Frequent (79-30%) | ||
| HP:0001167 | Abnormality of finger | |
| HP:0001166 | Arachnodactyly | |
| HP:0012430 | Cerebral white matter hypoplasia | |
| HP:0000175 | Cleft palate | |
| HP:0000162 | Glossoptosis | |
| HP:0001385 | Hip dysplasia | |
| HP:0000347 | Micrognathia | |
| HP:0002870 | Obstructive sleep apnea | |
| HP:0000396 | Overfolded helix | |
| HP:0002974 | Radioulnar synostosis | |
| HP:0009778 | Short thumb | |
| HP:0003396 | Syringomyelia | |
| HP:0001762 | Talipes equinovarus | |
| Occasional (29-5%) | ||
| HP:0009929 | Abnormal columella morphology | |
| HP:0025100 | Abnormal hippocampus morphology | |
| HP:0002687 | Abnormality of the frontal sinuses | |
| HP:0001631 | Atrial septal defect | |
| HP:0007099 | Chiari type I malformation | |
| HP:0000494 | Downslanted palpebral fissures | |
| HP:0007359 | Focal-onset seizure | |
| HP:0002705 | High, narrow palate | |
| HP:0000047 | Hypospadias | |
| HP:0000023 | Inguinal hernia | |
| HP:0000612 | Iris coloboma | |
| HP:0000394 | Lop ear | |
| HP:0001840 | Metatarsus adductus | |
| HP:0008551 | Microtia | |
| HP:0001845 | Overlapping toe | |
| HP:0004969 | Peripheral pulmonary artery stenosis | |
| HP:0002360 | Sleep abnormality | |
| HP:0000486 | Strabismus | |
| HP:0002944 | Thoracolumbar scoliosis | |
| HP:0000430 | Underdeveloped nasal alae | |
| HP:0001239 | Wrist flexion contracture | |
Run the differential on the 2 obligate / very frequent terms
Annotation source: 25195018[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/436003
- This record as JSON: /data/d/436003.json