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Isolated brachycephaly
2 OMIM references -
3 associated genes
87 connected diseases
12 signs/symptoms
Disease Type of connection
Isolated plagiocephaly
Saethre-Chotzen syndrome
Giant cell glioblastoma
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Extraskeletal myxoid chondrosarcoma
Isolated cloverleaf skull syndrome
Isolated scaphocephaly
Lacrimo-auriculo-dento-digital syndrome
Muenke syndrome
Severe achondroplasia - developmental delay - acanthosis nigricans
Thanatophoric dysplasia type 1
Thanatophoric dysplasia type 2
Precursor B-cell acute lymphoblastic leukemia
Autosomal agammaglobulinemia
Kallmann syndrome
Precursor T-cell acute lymphoblastic leukemia
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
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
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Isolated anophthalmia - microphthalmia
Septo-optic dysplasia
Normosmic congenital hypogonadotropic hypogonadism
Adrenocortical carcinoma
B-cell chronic lymphocytic leukemia
Essential thrombocythemia
Familial pancreatic carcinoma
Li-Fraumeni syndrome
Multiple synostoses syndrome
Papilloma of choroid plexus
Anaplastic ependymoma
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
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
Autosomal dominant centronuclear myopathy
Chronic myeloid leukemia
Familial platelet syndrome with predisposition to acute myelogenous leukemia
Familial thoracic aortic aneurysm and aortic dissection
Focal facial dermal dysplasia
ICF syndrome
Isolated NADH-CoQ reductase deficiency
Isolated delta-storage pool disease
Monomelic amyotrophy
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
Acrocallosal syndrome
Autosomal dominant hypophosphatemic rickets
Deafness with labyrinthine aplasia, microtia, and microdontia
Greig cephalopolysyndactyly syndrome
Hypercalcemic tumoral calcinosis
Neurologic Waardenburg-Shah syndrome
Oculootodental syndrome
Otodental 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
Waardenburg syndrome type 2
Waardenburg-Shah syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
- Non-syndromic bicornal 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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: normal
Type of inheritance: autosomal dominant
External references:
2 OMIM references -
No MeSH references

Gene symbol UniProt reference OMIM reference
FGFR3 P22607134934
TCF12 Q99081600480
TWIST1 Q15672601622
Very frequent
- Brachycephaly / flat occiput
- Broad forehead

- Cranial hypertension
- Flat supraorbital ridge
- Hearing loss / hypoacusia / deafness
- Proptosis / exophthalmos

- Autosomal dominant inheritance
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Metacarpal anomalies / Archibald's sign
- Mid-facial hypoplasia / short / small midface
- Short hand / brachydactyly