ODCs

Cytoscape Web

Click node...

Greenberg dysplasia

1 OMIM reference -
1 associated gene
16 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Greenberg dysplasia

Richieri Costa-Pereira syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	LBR	(0.49)	EIF4A3

Citations in the biomedical literature:

Greenberg dysplasia		Richieri Costa-Pereira syndrome
	Synonym(s): - Hydrops - ectopic calcification - motheaten - Skeletal dysplasia, Greenberg type		Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot

	Classification (Orphanet): - Inborn errors of metabolism - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease		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 -		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		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: C537299		External references: 1 OMIM reference - 1 MeSH reference: C535677


COMMON SIGNS	- Autosomal recessive inheritance - Micrognathia / retrognathia / micrognathism / retrognathism - Short stature / dwarfism / nanism

Greenberg dysplasia		Richieri Costa-Pereira syndrome
	Very frequent - Abnormal vertebral size / shape - Abnormal / absent ossification - Lymphedema - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Red cell disorders - Rhizomelic micromelia - Rib structure anomalies - Short hand / brachydactyly Frequent - Maternal hypertension / eclampsia / preeclampsia / gravidic toxemia - Mid-facial hypoplasia / short / small midface - Narrow rib cage / thorax - Poorly ossified skull / calvarium - Scalp / skull defect		Very frequent - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Low set ears / posteriorly rotated ears - Microstomia / little mouth - Prominent / bat ears - Radial club hand - 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