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Familial scaphocephaly syndrome, McGillivray type
1 OMIM reference -
1 associated gene
44 connected diseases
16 signs/symptoms
Disease Type of connection
Lacrimo-auriculo-dento-digital syndrome
Antley-Bixler syndrome
Apert syndrome
Crouzon disease
Cutis gyrata - acanthosis nigricans - craniosynostosis
FGFR2-related bent bone dysplasia
Jackson-Weiss syndrome
Pfeiffer syndrome type 1
Pfeiffer syndrome type 2
Pfeiffer syndrome type 3
Saethre-Chotzen syndrome
Kallmann syndrome
Normosmic congenital hypogonadotropic hypogonadism
Aplasia of lacrimal and salivary glands
Autosomal agammaglobulinemia
SHORT syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Oculootodental syndrome
Otodental syndrome
Acute promyelocytic leukemia
Autosomal dominant hyper-IgE syndrome
Juvenile myelomonocytic leukemia
Laron syndrome with immunodeficiency
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Multiple synostoses syndrome
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Early-onset autosomal dominant Alzheimer disease
Hereditary cerebral hemorrhage with amyloidosis, Arctic type
Hereditary cerebral hemorrhage with amyloidosis, Dutch type
Hereditary cerebral hemorrhage with amyloidosis, Flemish type
Hereditary cerebral hemorrhage with amyloidosis, Iowa type
Hereditary cerebral hemorrhage with amyloidosis, Italian type
Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
Aldosterone-producing adenoma with seizures and neurological abnormalities
Autosomal dominant hypophosphatemic rickets
Hypercalcemic tumoral calcinosis
Sinoatrial node dysfunction and deafness
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
- Scaphocephaly - macrocephaly - maxillary retrusion - intellectual deficit
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
FGFR2 P21802176943
Very frequent
- Autosomal dominant inheritance
- High forehead
- Hypertelorism
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Macrocephaly / macrocrania / megalocephaly / megacephaly

Frequent
- Dental malocclusion
- Dolichocephaly / scaphocephaly
- High vaulted / narrow palate
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Mid-facial hypoplasia / short / small midface

Occasional
- Broad / bifid big toe
- Dilated cerebral ventricles without hydrocephaly
- Prognathism / prognathia
- Syndactyly of toes
- Trigonocephaly
- Upslanted palpebral fissures / mongoloid slanting palpebral fissures