Richieri Costa-Pereira syndrome
Findings
No curated finding names Richieri Costa-Pereira syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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.
Definition from the Mondo Disease Ontology (MONDO:0009998), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
40 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Hypoplasia of the radiusHPOHP:0002984
- 24 of 24 reported patients
- Frequent (30% to 79% of cases)
- MicrognathiaHPOHP:0000347
- 28 of 28 reported patients
- MicroretrognathiaHPOHP:0000308
- 25 of 25 reported patients
- Very frequent (80% to 99% of cases)
- Short halluxHPOHP:0010109
- 28 of 28 reported patients
- Very frequent (80% to 99% of cases)
- Narrow mouthHPOHP:0000160
- 52 of 53 reported patients
- Talipes equinovarusHPOHP:0001762
- 52 of 53 reported patients
Show the remaining 28
- Small hypothenar eminenceHPOHP:0010487
- 20 of 24 reported patients
- Small thenar eminenceHPOHP:0001245
- 20 of 24 reported patients
- Frequent (30% to 79% of cases)
- Abnormal pinna morphologyHPOHP:0000377
- Very frequent (80% to 99% of cases)
- Agenesis of mandibular central incisorHPOHP:0006355
- 20 of 25 reported patients
- Very frequent (80% to 99% of cases)
- Aplasia/Hypoplasia of the thumbHPOHP:0009601
- Very frequent (80% to 99% of cases)
- Cleft palateHPOHP:0000175
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- EIF4A3HGNC:18683
- Definitive · G2P · Autosomal recessive · 2023
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2018
- Strong · PanelApp Australia · Autosomal recessive · 2025
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
2 names
Resolves to: Richieri Costa-Pereira syndrome
- Also called
- short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndromeshort stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome