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2 OMIM references -
1 associated gene
40 signs/symptoms
PROTEIN INTERACTIONS: 1
3 OMIM references -
3 associated genes
5 signs/symptoms
Cleidocranial dysplasia
46,XX testicular disorder of sex development

RUNX2 SOX3
SOX9
SRY


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
RUNX2
(0.65)
SOX9



Citations in the biomedical literature:


Cleidocranial dysplasia
RUNX2
46,XX testicular disorder of sex development
SOX3 SOX9 SRY



Cleidocranial dysplasia
46,XX testicular disorder of sex development

Synonym(s):
- Cleidocranial dysostosis

Synonym(s):
- 46,XX testicular DSD
- De la Chapelle syndrome
- XX, male syndrome

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare odontologic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare endocrine disease
- Rare genetic disease
- Rare infertility
- Rare urogenital 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:
(no data available)

External references:
2 OMIM references -
1 MeSH reference: D002973
External references:
3 OMIM references -
1 MeSH reference: D058531

Cleidocranial dysplasia
46,XX testicular disorder of sex development

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)


Very frequent
- Abnormal / polycystic ovaries
- Ambiguous genitalia
- Late puberty / hypogonadism / hypogenitalism
- Small / atrophic / hypoplastic testes / monorchism / microorchidism / anorchia
- X-linked recessive inheritance