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Isolated scaphocephaly
3 OMIM references -
3 associated genes
53 connected diseases
5 signs/symptoms
Disease Type of connection
Crouzon disease
Familial lambdoid synostosis
Frontonasal dysplasia with alopecia and genital anomaly
Isolated brachycephaly
Isolated cloverleaf skull syndrome
Parietal foramina
Potocki-Shaffer syndrome
Saethre-Chotzen syndrome
Precursor B-cell acute lymphoblastic leukemia
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Familial prostate cancer
Autosomal agammaglobulinemia
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Giant cell glioblastoma
Gliosarcoma
Li-Fraumeni syndrome
Papilloma of choroid plexus
Anaplastic ependymoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
46,XY partial gonadal dysgenesis
8p23.1 microdeletion syndrome
Atrial septal defect, ostium secundum type
Complete atrioventricular canal - Fallot tetralogy
Complete atrioventricular canal - left heart obstruction
Complete atrioventricular canal - ventricle hypoplasia
Familial atrial fibrillation
Focal facial dermal dysplasia
ICF syndrome
Kallmann syndrome
Neurologic Waardenburg-Shah syndrome
Partial atrioventricular canal
Recurrent infection due to specific granule deficiency
Single ventricular septal defect
Tetralogy of Fallot
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Distal 22q11.2 microdeletion syndrome
Acrocallosal syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Greig cephalopolysyndactyly syndrome
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Synonym(s):
- Isolated dolichocephaly
- Non-syndromic sagittal synostosis
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare eye disease
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: 1-5 / 10 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
3 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ALX4 Q9H161605420
ERF P50548611888
TWIST1 Q15672601622
Very frequent
- Dolichocephaly / scaphocephaly

Occasional
- Autosomal dominant inheritance
- Cranial hypertension
- Frontal bossing / prominent forehead
- Prominent occiput / occipital bossing