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Familial lambdoid synostosis
1 OMIM reference -
1 associated gene
5 connected diseases
16 signs/symptoms
Disease Type of connection
Crouzon disease
Isolated cloverleaf skull syndrome
Isolated scaphocephaly
Distal 22q11.2 microdeletion syndrome
Familial prostate cancer
Synonym(s):
(no synonyms)
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
ERF P50548611888
Very frequent
- Brachycephaly / flat occiput
- Craniostenosis / craniosynostosis / sutural synostosis
- Plagiocephaly

Frequent
- External ear anomalies
- Frontal bossing / prominent forehead
- Hypotonia

Occasional
- Blepharophimosis / short palpebral fissures
- Downturned mouth
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Grooved / dimple chin
- Hydrocephaly
- Hypertonia / spasticity / rigidity / stiffness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Prominent / bat ears
- Round ear
- Telecanthus / canthal dystopy