Intellectual disability-brachydactyly-Pierre Robin syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Age of onset
- Neonatal
- Status
- active
Intellectual disability-brachydactyly-Pierre Robin syndrome is a rare developmental defect during embryogenesis syndrome characterized by mild to moderate intellectual disability and phsychomotor delay, Robin sequence (incl. severe micrognathia and soft palate cleft) and distinct dysmorphic facial features (e.g. synophris, short palpebral fissures, hypertelorism, small, low-set, and posteriorly angulated ears, bulbous nose, long/flat philtrum, and bow-shaped upper lip). Skeletal anomalies, such as brachydactyly, clinodactyly, small hands and feet, and oral manifestations (e.g. bifid, short tongue, oligodontia) are also associated. Additional features reported include microcephaly, capillary hemangiomas on face and scalp, ventricular septal defect, corneal clouding, nystagmus and profound sensorineural deafness.
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Intellectual disability-brachydactyly-Pierre Robin syndrome | |
| fr | Syndrome de Pierre Robin-déficience intellectuelle-brachydactylie | |
| de | Intelligenzminderung-Brachydaktylie-Pierre Robin-Syndrom | |
| es | Síndrome de Pierre Robin-discapacidad intelectual-braquidactilia | |
| it | Sindrome di Pierre Robin - brachidattilia - disabilità intellettiva | |
| nl | Intellectuele achterstand - brachydactylie - Pierre Robin sequentie-syndroom | |
| pt | Síndrome de perturbação do desenvolvimento intelectual-braquidactilia-sequência de Pierre Robin | |
| pl | Zespół Pierre'a Robina z niepełnosprawnością intelektualną i brachydaktylią | |
| cs | Syndrom zahrnující mentální retardaci, brachydaktylii a Pierre Robinovu anomálii | |
| uk | Інтелектуальна недостатність-брахідактилія-синдром Пєра Робена | |
| zh | 智力障碍-短指-皮埃尔罗宾综合征 | |
| tr | Zihinsel yetersizlik-brakidaktili-Pierre Robin sendromu |
Definition in:
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 608670 | E | validated | |
| ICD-10 | Q87.0 | NTBT | attributed | validated |
| MONDO | 0012095 | E | validated | |
| UMLS | C4706564 | 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:363294Genetic syndromic Pierre Robin syndrome
rare genetic diseases - ORPHA:102283Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
rare developmental anomalies during embryogenesis; rare neurological diseases - ORPHA:138044Rare disease with Pierre Robin syndrome
rare developmental anomalies during embryogenesis; 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 | 4 cases | Worldwide | Case(s) | Validated | 15057987[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET_15057987[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
43 annotations · validated 2019-11-20| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Frequent (79-30%) | ||
| HP:0001156 | Brachydactyly | |
| HP:0000175 | Cleft palate | |
| HP:0002263 | Exaggerated cupid's bow | |
| HP:0001263 | Global developmental delay | |
| HP:0000316 | Hypertelorism | |
| HP:0001256 | Intellectual disability, mild | |
| HP:0011341 | Long upper lip | |
| HP:0000252 | Microcephaly | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0012745 | Short palpebral fissure | |
| HP:0000430 | Underdeveloped nasal alae | |
| Occasional (29-5%) | ||
| HP:0030680 | Abnormal cardiovascular system morphology | |
| HP:0011078 | Abnormality of canine | |
| HP:0006289 | Agenesis of central incisor | |
| HP:0009246 | Aplasia of the distal phalanx of the 5th finger | |
| HP:0100380 | Aplasia of the distal phalanx of the 5th toe | |
| HP:0000414 | Bulbous nose | |
| HP:0000957 | Cafe-au-lait spot | |
| HP:0010752 | Cleft mandible | |
| HP:0007957 | Corneal opacity | |
| HP:0011401 | Delayed peripheral myelination | |
| HP:0000232 | Everted lower lip vermilion | |
| HP:0000996 | Facial capillary hemangioma | |
| HP:0001508 | Failure to thrive | |
| HP:0000365 | Hearing impairment | |
| HP:0001252 | Hypotonia | |
| HP:0001511 | Intrauterine growth retardation | |
| HP:0000171 | Microglossia | |
| HP:0000568 | Microphthalmia | |
| HP:0000639 | Nystagmus | |
| HP:0000677 | Oligodontia | |
| HP:0001562 | Oligohydramnios | |
| HP:0012370 | Prominence of the zygomatic bone | |
| HP:0005487 | Prominent metopic ridge | |
| HP:0000426 | Prominent nasal bridge | |
| HP:0002000 | Short columella | |
| HP:0003196 | Short nose | |
| HP:0000385 | Small earlobe | |
| HP:0001792 | Small nail | |
| HP:0000664 | Synophrys | |
| HP:0000506 | Telecanthus | |
| HP:0010804 | Tented upper lip vermilion | |
| HP:0045074 | Thin eyebrow | |
Annotation source: 11337748[PMID]_15057987[PMID]
Sources for this card
- Orphanet page: orpha.net/en/disease/detail/364577
- This record as JSON: /data/d/364577.json