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Isolated trigonocephaly
2 OMIM references -
2 associated genes
55 connected diseases
7 signs/symptoms
Disease Type of connection
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
BNAR syndrome
Congenital diaphragmatic hernia
Giant cell glioblastoma
Gliosarcoma
Hartsfield-Bixler-Demyer syndrome
Myeloid neoplasm associated with FGFR1 rearrangement
Oculotrichoanal syndrome
Oligodontia
Osteoglophonic dwarfism
Pfeiffer syndrome type 1
Pilocytic astrocytoma
Septo-optic dysplasia
Autosomal agammaglobulinemia
SHORT syndrome
Coffin-Lowry syndrome
X-linked non-syndromic intellectual deficit
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Autosomal dominant hyper-IgE syndrome
Autosomal dominant hypophosphatemic rickets
Autosomal dominant nonsyndromic intellectual deficit
B-cell chronic lymphocytic leukemia
Budd-Chiari syndrome
Craniopharyngioma
Desmoid tumor
Essential thrombocythemia
Familial gastric cancer
Familial thrombocytosis
Gastric linitis plastica
Hepatocellular carcinoma, childhood-onset
Hypercalcemic tumoral calcinosis
Lethal congenital contracture syndrome type 2
Myelofibrosis with myeloid metaplasia
Pilomatrixoma
Polycythemia vera
Alobar holoprosencephaly
Cherubism
Lobar holoprosencephaly
Megalencephaly - polymicrogyria - postaxial polydactyly - hydrocephalus
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Nodulosis-arthropathy-osteolysis syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Torg-Winchester syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Hereditary gingival fibromatosis
Noonan syndrome
Oculootodental syndrome
Otodental syndrome
Autosomal recessive lymphoproliferative disease
Synonym(s):
- Non-syndromic metopic craniosynostosis
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
FGFR1 P11362136350
FREM1 Q5H8C1608944
Very frequent
- Autosomal dominant inheritance
- Trigonocephaly

Frequent
- Broad nasal root
- Hypotelorism
- Prominent supraorbital ridge
- Synophris / synophrys

Occasional
- Omphalocele / exomphalos