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2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
1 OMIM reference -
1 associated gene
52 signs/symptoms
Cleidocranial dysplasia
2q37 microdeletion syndrome

RUNX2 HDAC4


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.78)
HDAC4



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
2q37 microdeletion syndrome
HDAC4



Cleidocranial dysplasia
2q37 microdeletion syndrome

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- Albright hereditary osteodystrophy 3
- Albright hereditary osteodystrophy-like syndrome
- Brachydactyly-intellectual deficit
- Del(2)(q37)
- Deletion 2q37
- Deletion 2q37-qter
- Monosomy 2q37-qter

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

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

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
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: sporadic

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
1 OMIM reference -
1 MeSH reference: C538317


COMMON
SIGNS
- Frontal bossing / prominent forehead
- High vaulted / narrow palate
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Short hand / brachydactyly
- Short stature / dwarfism / nanism


Cleidocranial dysplasia
2q37 microdeletion syndrome

Very frequent
- Anomalies of teeth and dentition
- Autosomal dominant inheritance
- Clavicle absent / abnormal
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Hypertelorism
- Hypoplastic mandibula / partial absence of the mandibula
- Large fontanelle / delayed fontanelle closure
- Narrow / sloping shoulders
- Repeat respiratory infections
- 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
- 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
- Motor deficit / trouble
- Mutiple fractures / bone fragility
- Pelvis anomaly / Narrow / broad iliac wings / pubis abnormality
- Scoliosis
- Tapered fingers
- Thumb anomalies (excluding hypoplasia)


Very frequent
- Hypotonia
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface
- Round face

Frequent
- Abnormally placed nipples
- Absent / decreased / thin eyebrows
- Anteverted nares / nostrils
- Clinodactyly of fifth finger
- Congenital cardiac anomaly / malformation / cardiopathy
- Deepset eyes / enophthalmos
- Depressed nasal bridge
- Downturned mouth
- Eczema
- Generalized obesity
- High arched eyebrows
- Hyperextensible joints / articular hyperlaxity
- Hypotrichosis / atrichia / atrichiasis / scalp hairlessness
- Metacarpal anomalies / Archibald's sign
- Microcephaly
- Psychic / behavioural troubles
- Seizures / epilepsy / absences / spasms / status epilepticus
- Simian crease / transverse / unique palmar crease
- Small foot
- Small hand / acromicria
- Supernumerary nipples / polythelia
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Thick columella
- Thin / hypoplastic ala nasi
- Thin / retracted lips
- Umbilical hernia
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures

Occasional
- Autism / autistic disoders
- Conductive deafness / hearing loss
- Diaphragmatic hernia / defect / agenesis
- Gastric / pyloric stenosis
- Hyperactivity / attention deficit
- Hypoplastic aorta / coarctation / stenosis / anomaly / aortic arch interruption
- Laryngomalacia
- Multicystic kidney / renal dysplasia
- Nephroblastoma / Wilms tumor
- Obsessive-compulsive disorder
- Short neck
- Sleep and vigilance disorders
- Tics / stereotypias
- Tracheomalacia / tracheobronchomalacia