ODCs

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1 OMIM reference -
1 associated gene
21 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 1

7 OMIM references -
6 associated genes
12 signs/symptoms

Richieri Costa-Pereira syndrome

Hypotrichosis simplex


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	EIF4A3	(0.63)	RPL21

Citations in the biomedical literature:

Richieri Costa-Pereira syndrome		Hypotrichosis simplex
	Synonym(s): - Short stature - Pierre Robin sequence - cleft mandible - hand anomalies clubfoot - Short stature - Pierre Robin syndrome - cleft mandible - hand anomalies clubfoot		Synonym(s): - Hereditary hypotrichosis simplex

	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): - Diseases of the skin and subcutaneous tissue -

	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: childhood Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - 1 MeSH reference: C535677		External references: 7 OMIM references - 1 MeSH reference: C537160


COMMON SIGNS	- Autosomal recessive inheritance

Richieri Costa-Pereira syndrome		Hypotrichosis simplex
	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 - Absent / decreased lashes - Absent / decreased / thin eyebrows - Alopecia - Autosomal dominant inheritance - Decreased body hair / axillar / pubic hairlessness - Hypotrichosis / atrichia / atrichiasis / scalp hairlessness Frequent - Lanugo - Woolly / frizzy hair Occasional - Follicular / erythematous / edematous papules / milium - Hyperkeratosis / ainhum / hyperkeratotic skin fissures - Pruritus / itching