ODCs

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Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
86 connected diseases
21 signs/symptoms

Disease	Type of connection
Retinitis pigmentosa
Epidermolytic palmoplantar keratoderma
Blackfan-Diamond anemia
Precursor T-cell acute lymphoblastic leukemia
Annular epidermolytic ichthyosis
Epidermolysis bullosa simplex with mottled pigmentation
Epidermolysis bullosa simplex, Dowling-Meara type
Epidermolytic ichthyosis
Generalized epidermolysis bullosa simplex, non-Dowling-Meara type
Localized epidermolysis bullosa simplex
Pachyonychia congenita
46,XY partial gonadal dysgenesis
Thrombocytopenia - absent radius
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
Amyotrophic lateral sclerosis
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Autosomal recessive epidermolysis bullosa simplex
Dermatopathia pigmentosa reticularis
Distal myopathy with vocal cord weakness
Fragile X syndrome
Fragile X-associated tremor / ataxia syndrome
Ichthyosis hystrix of Curth-Macklin
Keratosis palmoplantaris striata
Mandibulofacial dysostosis-microcephaly syndrome
Naegeli-Franceschetti-Jadassohn syndrome
Xq27.3q28 duplication syndrome
Young adult-onset Parkinsonism
17q11 microdeletion syndrome
2p21 microdeletion syndrome
46,XX gonadal dysgenesis
46,XY complete gonadal dysgenesis
Atrial septal defect, ostium secundum type
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant methemoglobinemia
Autosomal dominant nonsyndromic sensorineural deafness type DFNA
Autosomal recessive cerebellar ataxia - epilepsy - intellectual deficit
Autosomal recessive nonsyndromic intellectual deficit
Baraitser-Winter syndrome
Beta-thalassemia intermedia
Beta-thalassemia major
Bloom syndrome
Congenital reticular ichthyosiform erythroderma
Delta-beta-thalassemia
Developmental malformations - deafness - dystonia
Dominant beta-thalassemia
Dowling-Degos disease
Epidermolysis bullosa simplex with circinate migratory erythema
Familial isolated dilated cardiomyopathy
Familial pancreatic carcinoma
Fibronectin glomerulopathy
Generalized juvenile polyposis / juvenile polyposis coli
Heinz body anemia
Hemoglobin C - beta-thalassemia
Hemoglobin C disease
Hemoglobin D disease
Hemoglobin E - beta-thalassemia
Hemoglobin E disease
Hemoglobin Lepore - beta-thalassemia
Hereditary hemorrhagic telangiectasia
Hereditary persistence of fetal hemoglobin - beta-thalassemia
Hereditary persistence of fetal hemoglobin - sickle cell disease
Hypotrichosis simplex
Left ventricular noncompaction
Myhre syndrome
Neuroblastoma
Pseudohypoaldosteronism type 2E
Pulverulent cataract
Sickle cell - beta-thalassemia disease
Sickle cell - hemoglobin C disease
Sickle cell - hemoglobin D disease
Sickle cell - hemoglobin E disease
Sickle cell anemia
Superficial epidermolytic ichthyosis
TARP syndrome
Woolly hair
Atypical teratoid tumor
Coffin-Siris syndrome
Extraskeletal Ewing sarcoma
Familial infantile bilateral striatal necrosis
Familial multiple meningioma
Familial rhabdoid tumor
Greenberg dysplasia
Neurofibromatosis type 3
Reynolds syndrome
Very long chain acyl-CoA dehydrogenase deficiency

Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data: Class of prevalence: <1 / 1 000 000 Average age onset: neonatal/infancy Average age of death: - Type of inheritance: autosomal recessive		External references: 1 OMIM reference - 1 MeSH reference: C535677

Gene symbol	UniProt reference	OMIM reference
EIF4A3	P38919	608546

Very frequent

- Autosomal recessive inheritance
- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula
- Low set ears / posteriorly rotated ears
- Micrognathia / retrognathia / micrognathism / retrognathism
- Microstomia / little mouth
- Prominent / bat ears
- Radial club hand
- Short stature / dwarfism / nanism
- Talipes-varus / metatarsal varus
- Thumb hypoplasia / aplasia / absence

Frequent

- Anodontia / oligodontia / hypodontia
- Clinodactyly of fifth finger
- Facial cleft
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Glossoptosis
- Metacarpal anomalies / Archibald's sign
- Radius anomaly / absence / agenesis / hypoplasia / abnormal radial ray
- Respiratory distress / dyspnea / respiratory failure / lung volume reduction

Occasional

- High vaulted / narrow palate
- Proximally set thumb
- Tibia anomaly (excluding short) / absence / agenesis / hypoplasia / tibial ray anomaly