ODCs

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1 OMIM reference -
1 associated gene
35 signs/symptoms

PROTEIN INTERACTIONS: 1
COMMON SIGNS: 3

Richieri Costa-Pereira syndrome

1 OMIM reference -
1 associated gene
21 signs/symptoms

Myhre syndrome

Richieri Costa-Pereira syndrome

(UniProt - OMIM)

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	SMAD4	(0.63)	EIF4A3

Citations in the biomedical literature:

Myhre syndrome		Richieri Costa-Pereira syndrome
	Synonym(s): - Facial dysmorphism - intellectual deficit - short stature - hearing loss		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 neurologic 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: childhood Average age of death: - Type of inheritance: autosomal dominant		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 - No MeSH references		External references: 1 OMIM reference - 1 MeSH reference: C535677


COMMON SIGNS	- Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Microstomia / little mouth - Short stature / dwarfism / nanism

Myhre syndrome		Richieri Costa-Pereira syndrome
	Very frequent - Anomalies of the ribs - Dense / thickened skull / calvarium / cranial / facial hyperostosis - Hearing loss / hypoacusia / deafness - Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia - Intellectual deficit / mental / psychomotor retardation / learning disability - Intrauterine growth retardation - Mid-facial hypoplasia / short / small midface - Muscle hypertrophy - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Platyspondyly - Prognathism / prognathia - Restricted joint mobility / joint stiffness / ankylosis - Short hand / brachydactyly - Short philtrum - Thin / retracted lips Frequent - Abnormal EMG / electromyogram / electropmyography - Blepharophimosis / short palpebral fissures - Cardiac septal defect - Chronic arterial hypertension - Epiphyseal anomaly - Hypermetropia - Metaphyseal anomaly - Ptosis - Thick skin / pachydermia / orange skin - Undescended / ectopic testes / cryptorchidia / unfixed testes Occasional - Cataract / lens opacification - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Late puberty / hypogonadism / hypogenitalism - Lateral cleft lip / gingival cleft / paramedian nasal cleft - Precocious puberty - Psychic / behavioural troubles		Very frequent - Autosomal recessive inheritance - Low set ears / posteriorly rotated ears - Micrognathia / retrognathia / micrognathism / retrognathism - 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