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Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

3 OMIM references -
4 associated genes
14 signs/symptoms

Richieri Costa-Pereira syndrome

Woolly hair

EIF4A3	(UniProt - OMIM)		KRT71	(UniProt - OMIM)
			KRT74	(UniProt - OMIM)
			LIPH	(UniProt - OMIM)
			LPAR6	(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EIF4A3	(0.63)	KRT71

Citations in the biomedical literature:

Richieri Costa-Pereira syndrome		Woolly hair
	Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot		Synonym(s): - Familial woolly hair syndrome - Familial wooly hair syndrome - Hereditary woolly hair syndrome - Hereditary wooly hair syndrome - Wooly hair

	Classification (Orphanet): - Rare developmental defect during embryogenesis - Rare genetic disease - Rare maxillo-facial surgical disease - Rare otorhinolaryngologic disease		Classification (Orphanet): - Rare genetic disease - Rare skin 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: unknown Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535677		External references: 3 OMIM references - 1 MeSH reference: C536745


COMMON SIGNS	- Autosomal recessive inheritance

Richieri Costa-Pereira syndrome		Woolly hair
	Very frequent - 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		Very frequent - Abnormal hair texture / hair dysplasia - Autosomal dominant inheritance - Brittle hair / distrix / trichorrhexis - Fine hair - Woolly / frizzy hair Frequent - Decreased hair pigmentation / hypopigmentation of hair - slow growth of the hair Occasional - Absent / decreased / thin eyebrows - Cataract / lens opacification - Decreased body hair / axillar / pubic hairlessness - Pupillary anomalies / mydriasis / myosis / tonic pupil - Retinal vascular anomalies / retinal telangiectasia - Strabismus / squint