ORPHA:3102
Richieri Costa-Pereira syndrome
Synonyms: Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
- Type
- Malformation syndrome
- Group
- Disorder
- Inheritance
- Autosomal recessive
- Age of onset
- Infancy, Neonatal
- Status
- active
Richieri Costa-Pereira syndrome is characterized by short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies (including hypoplastic thumbs), and clubfoot. It has been described in 14 Brazilian families and in one unrelated French patient. Prominent low set ears and a highly arched palate were also observed. Transmission is autosomal recessive.
1
Names in Orphadata languages
12 of 12 languages| Lang | Name | Synonyms |
|---|---|---|
| en | Richieri Costa-Pereira syndrome | Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome · Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome |
| fr | Syndrome de Richieri-Costa-Pereira | Syndrome de petite taille-syndrome de Pierre Robin-fente mandibulaire-anomalie des mains · Syndrome de petite taille-séquence de Pierre Robin-fente mandibulaire-anomalie des mains |
| de | Richieri-Costa-Pereira-Syndrom | Kleinwuchs - Pierre Robin-Sequenz - maxilläre Kieferspalte - Klumpfüße - Anomalien der Hände |
| es | Síndrome de Richieri Costa-Pereira | Talla baja-secuencia de Pierre Robin-fisura maxilar-anomalías de las manos-pie zambo · Talla baja-síndrome de Pierre Robin-fisura maxilar-anomalías de las manos-pie zambo |
| it | Sindrome di Richieri Costa-Pereira | Statura bassa - sequenza di Pierre Robin - schisi mascellare - piedi torti - anomalie delle mani · Statura bassa - sindrome di Pierre Robin - schisi mascellare - piedi torti - anomalie delle mani |
| nl | Syndroom van Richieri Costa-Pereira | Kleine gestalte - Pierre Robin sequentie - gespleten onderkaak - handanomalieën - klompvoet-syndroom · Kleine gestalte - syndroom van Pierre Robin - gespleten onderkaak - handanomalieën - klompvoet-syndroom |
| pt | Síndrome Richieri Costa-Pereira | Síndrome de baixa estatura-sequência Pierre Robin-fenda mandibular-anomalias das mãos-pé boto · Síndrome de baixa estatura-síndrome Pierre Robin-fenda mandibular-anomalias das mãos-pé boto |
| pl | Zespół Richieri Costa i Pereira | Niski wzrost - sekwencja Pierre'a Robina - rozszczep żuchwy - wady rąk - stopa końsko-szpotawa · Niski wzrost - zespół Pierre'a Robina - rozszczep żuchwy - wady rąk - stopa końsko-szpotawa |
| cs | Richieri Costův-Pereirové syndrom | Syndrom zahrnující nízký vzrůst, Pierre Robinovu sekvenci, rozštěp dolní čelisti, anomálie rukou a pes equinovarus congenitus · Syndrom zahrnující nízký vzrůst, Pierre Robinův syndrom, rozštěp dolní čelisti, anomálie rukou a pes equinovarus congenitus · Richieri Costa-Pereirové syndrom |
| uk | Синдром Річчієрі Коста-Перейра | Синдром нНизькорослості - послідовності Пєра Робена - розщілини нижньої щелепи - аномалії кистей рук - клишоногості · Синдром низькорослості - синдрома Пєра Робена - розщілини нижньої щелепи - аномалії кистей рук - клишоногості |
| zh | Richieri Costa-Pereira综合征 | 身材矮小- pierre Robin综合征-下颌唇腭裂-手部畸形-马蹄内翻足综合征 |
| tr | Richieri Costa-Pereira sendromu | Kısa boy-Pierre Robin dizisi-yarık mandibula-el anomalileri çarpık ayak sendromu · Kısa boy-Pierre Robin sendromu-yarık mandibula-el anomalileri çarpık ayak sendromu |
Definition in:
2
Cross-references
qualifier = Orphanet mapping relation| Source | Code | Qualifier | ICD relation | Validation |
|---|---|---|---|---|
| OMIM | 268305 | E | validated | |
| ICD-10 | Q87.8 | NTBT | attributed | validated |
| ICD-11 | LD2F.1Y | NTBT | index | validated |
| MONDO | 0009998 | E | validated | |
| MeSH | C535677 | E | validated | |
| UMLS | C1849348 | E | validated | |
| GARD | 4718 | 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 (4):
- ORPHA:364574Acrofacial dysostosis
rare developmental anomalies during embryogenesis; rare genetic diseases; rare bone diseases - ORPHA:330206Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare genetic diseases - ORPHA:102285Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
rare developmental anomalies during embryogenesis - ORPHA:139039Orofacial clefting syndrome
rare developmental anomalies during embryogenesis; rare genetic diseases; rare otorhinolaryngological diseases; rare surgical maxillo-facial diseases
No children.
4
Genes
1 direct| Gene | Association | Status | HGNC | Ensembl | OMIM | Locus | Name | Source of validation |
|---|---|---|---|---|---|---|---|---|
| EIF4A3 | Disease-causing germline mutation(s) (loss of function) in | Assessed | HGNC:18683 | ENSG00000141543 | 608546 | 17q25.3 | eukaryotic translation initiation factor 4A3 | 24360804[PMID] |
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Prevalence and incidence
2 records| Type | Class | Value | Area | Qualification | Validation | Source |
|---|---|---|---|---|---|---|
| Cases/families | 33 cases | Worldwide | Case(s) | Validated | 23794199[PMID] | |
| Point prevalence | <1 / 1 000 000 | — | Worldwide | Class only | Validated | ORPHANET |
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 2025-04-23| HPO | Term (as annotated by Orphanet) | Diagnostic |
|---|---|---|
| Very frequent (99-80%) | ||
| HP:0000377 | Abnormal pinna morphology | |
| HP:0006355 | Agenesis of mandibular central incisor | |
| HP:0009601 | Aplasia/Hypoplasia of the thumb | |
| HP:0000308 | Microretrognathia | |
| HP:0010109 | Short hallux | |
| HP:0001762 | Talipes equinovarus | |
| Frequent (79-30%) | ||
| HP:0200154 | Agenesis of mandibular lateral incisor | |
| HP:0000690 | Agenesis of maxillary lateral incisor | |
| HP:0006536 | Airway obstruction | |
| HP:0010752 | Cleft mandible | |
| HP:0004209 | Clinodactyly of the 5th finger | |
| HP:0008872 | Feeding difficulties in infancy | |
| HP:0003038 | Fibular hypoplasia | |
| HP:0001609 | Hoarse voice | |
| HP:0012789 | Hypoplasia of the calcaneus | |
| HP:0002984 | Hypoplasia of the radius | |
| HP:0005011 | Mesomelic arm shortening | |
| HP:0004987 | Mesomelic leg shortening | |
| HP:0002643 | Neonatal respiratory distress | |
| HP:0000201 | Pierre-Robin sequence | |
| HP:0009237 | Short 5th finger | |
| HP:0004322 | Short stature | |
| HP:0005736 | Short tibia | |
| HP:0001245 | Small thenar eminence | |
| Occasional (29-5%) | ||
| HP:0008744 | Abnormal aryepiglottic fold morphology | |
| HP:0011051 | Agenesis of premolar | |
| HP:0010565 | Aplasia/Hypoplasia of the Epiglottis | |
| HP:0000193 | Bifid uvula | |
| HP:0001328 | Specific learning disability | |
Run the differential on the 6 obligate / very frequent terms
Annotation source: 21271648[PMID]_29112243[PMID]_33504197[PMID]
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Sources for this card
- Orphanet page: orpha.net/en/disease/detail/3102
- This record as JSON: /data/d/3102.json