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2 OMIM references -
3 associated genes
12 signs/symptoms
COMMON GENES: 1
COMMON SIGNS: 4
2 OMIM references -
2 associated genes
14 signs/symptoms
Isolated brachycephaly
Isolated cloverleaf skull syndrome

FGFR3 ERF
TCF12 FGFR3
TWIST1


COMMON
GENES
FGFR3



Citations in the biomedical literature:


Isolated brachycephaly
FGFR3 TCF12 TWIST1
Isolated cloverleaf skull syndrome
ERF



Isolated brachycephaly
Isolated cloverleaf skull syndrome

Synonym(s):
- Non-syndromic bicornal synostosis

Synonym(s):
- Kleeblattschaedel syndrome

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

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

Epidemiological data:
Class of prevalence: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: sporadic

External references:
2 OMIM references -
No MeSH references
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Autosomal dominant inheritance
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos


Isolated brachycephaly
Isolated cloverleaf skull syndrome

Very frequent
- Brachycephaly / flat occiput
- Broad forehead

Frequent
- Cranial hypertension
- Flat supraorbital ridge
- Hearing loss / hypoacusia / deafness

Occasional
- Hypertelorism
- Metacarpal anomalies / Archibald's sign
- Short hand / brachydactyly


Very frequent
- Beaked nose
- Depressed premaxillary region / midface
- High forehead
- Low set ears / posteriorly rotated ears
- Stillbirth / neonatal death

Frequent
- Abnormal vertebral size / shape
- Craniostenosis / craniosynostosis / sutural synostosis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Restricted joint mobility / joint stiffness / ankylosis
- Syndactyly of fingers / interdigital palm