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Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

1 OMIM reference -
1 associated gene
No signs/symptoms info

PROTEIN INTERACTIONS: 1

Cleidocranial dysplasia

2 OMIM references -
1 associated gene
40 signs/symptoms

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion

Cleidocranial dysplasia

CREBBP

(UniProt - OMIM)

RUNX2

(UniProt - OMIM)


INTERACTOME ASSOCIATIONS (click on a score value to see the evidence)	CREBBP	(0.63)	RUNX2

Citations in the biomedical literature:

Rubinstein-Taybi syndrome due to 16p13.3 microdeletion		Cleidocranial dysplasia
	Synonym(s): (no synonyms)		Synonym(s): - Cleidocranial dysostosis

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare endocrine disease - Rare eye disease - Rare genetic disease - Rare neurologic disease - Rare oncologic disease - Rare renal disease		Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare odontologic disease

	Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -		Classification (ICD10): - Congenital malformations, deformations and chromosomal abnormalities -

	Epidemiological data: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 1 000 000 Average age onset: neonatal/infancy Average age of death: normal Type of inheritance: autosomal dominant

	External references: 1 OMIM reference - No MeSH references		External references: 2 OMIM references - 1 MeSH reference: D002973

Cleidocranial dysplasia
	Very frequent - Anomalies of teeth and dentition - Autosomal dominant inheritance - Clavicle absent / abnormal - Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia - Frontal bossing / prominent forehead - High vaulted / narrow palate - Hypertelorism - Hypoplastic mandibula / partial absence of the mandibula - Large fontanelle / delayed fontanelle closure - Narrow / sloping shoulders - Repeat respiratory infections - Short stature / dwarfism / nanism - Supernumerary teeth / polyodontia - Wormian bones Frequent - Anomalies of ear and hearing - Anomalies of the ribs - Chronic / relapsing otitis - Delayed dentition / eruption of teeth / lack of eruption of teeth - Dental malocclusion - Hearing loss / hypoacusia / deafness - Narrow rib cage / thorax - Nasal congestion / sinusitis / rhinitis / rhinorrhea - Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets - Poorly ossified skull / calvarium - Sacro-coccyx / sacrum anomaly - Short hand / brachydactyly - Sloping forehead - Small face Occasional - Apnea / sleep apnea - Brachycephaly / flat occiput - Cleft palate without cleft lip / submucosal cleft palate / bifid uvula - Epiphyseal anomaly - Genu valgum - Macrocephaly / macrocrania / megalocephaly / megacephaly - Motor deficit / trouble - Mutiple fractures / bone fragility - Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality - Scoliosis - Tapered fingers - Thumb anomalies (excluding hypoplasia)
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
(no data available)