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Isolated plagiocephaly
1 OMIM reference -
2 associated genes
68 connected diseases
11 signs/symptoms
Disease Type of connection
Isolated brachycephaly
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Extraskeletal myxoid chondrosarcoma
Giant cell glioblastoma
Isolated cloverleaf skull syndrome
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Saethre-Chotzen syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Kallmann syndrome
Precursor T-cell acute lymphoblastic leukemia
Precursor B-cell acute lymphoblastic leukemia
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Normosmic congenital hypogonadotropic hypogonadism
Multiple synostoses syndrome
Autosomal agammaglobulinemia
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Burkitt lymphoma
Papillary or follicular thyroid carcinoma
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Aneurysm - osteoarthritis syndrome
Anophthalmia / microphthalmia - esophageal atresia
Autosomal dominant centronuclear myopathy
Chronic myeloid leukemia
Colobomatous microphthalmia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial thoracic aortic aneurysm and aortic dissection
Isolated NADH-CoQ reductase deficiency
Isolated anophthalmia - microphthalmia
Isolated delta-storage pool disease
Monomelic amyotrophy
Septo-optic dysplasia
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Partial pancreatic agenesis
Permanent neonatal diabetes mellitus - pancreatic and cerebellar agenesis
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Spinocerebellar ataxia type 17
Autosomal dominant hypophosphatemic rickets
Deafness with labyrinthine aplasia, microtia, and microdontia
Hypercalcemic tumoral calcinosis
Neurologic Waardenburg-Shah syndrome
Oculootodental syndrome
Otodental syndrome
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
- Non-syndromic unicoronal synostosis
- Synostotic plagiocephaly

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:
1 OMIM reference -
No MeSH references

Gene symbol UniProt reference OMIM reference
FGFR3 P22607134934
TCF12 Q99081600480
Very frequent
- Facial structural asymmetry / facial hemiatrophy / facial hemihypertrophy
- Frontal bossing / prominent forehead
- Plagiocephaly

- Abnormal eye movements / oculomotor disorder
- Abnormal visual field / hemianopsia / hemianopia / scotoma / visual peripheral rim
- Strabismus / squint

- Autosomal dominant inheritance
- Hearing loss / hypoacusia / deafness
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Mid-facial hypoplasia / short / small midface