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Isolated cloverleaf skull syndrome
2 OMIM references -
2 associated genes
46 connected diseases
14 signs/symptoms
Disease Type of connection
Achondroplasia
Camptodactyly - tall stature - scoliosis - hearing loss
Crouzon disease
Crouzon syndrome - acanthosis nigricans
Cutis gyrata - acanthosis nigricans - craniosynostosis
Familial lambdoid synostosis
Giant cell glioblastoma
Gliosarcoma
Hypochondroplasia
Isolated brachycephaly
Isolated plagiocephaly
Isolated scaphocephaly
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
Normosmic congenital hypogonadotropic hypogonadism
Multiple synostoses syndrome
Distal 16p11.2 microdeletion syndrome
Proximal 16p11.2 microdeletion syndrome
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Alobar holoprosencephaly
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
Autosomal dominant hyper-IgE syndrome
Chronic mucocutaneous candidiasis
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Susceptibility to viral and mycobacterial infections
Isolated NADH-CoQ reductase deficiency
Monomelic amyotrophy
Pycnodysostosis
Distal 22q11.2 microdeletion syndrome
Familial prostate cancer
Autosomal dominant hypophosphatemic rickets
Deafness with labyrinthine aplasia, microtia, and microdontia
Hypercalcemic tumoral calcinosis
Oculootodental syndrome
Otodental syndrome
Diffuse cutaneous systemic sclerosis
Limited cutaneous systemic sclerosis
Synonym(s):
- Kleeblattschaedel syndrome
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: unknown
Average age onset: neonatal/infancy
Average age of death: before age 5
Type of inheritance: sporadic
External references:
2 OMIM references -
No MeSH references
Gene symbol UniProt reference OMIM reference
ERF P50548611888
FGFR3 P22607134934
Very frequent
- Autosomal dominant inheritance
- Beaked nose
- Depressed premaxillary region / midface
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Low set ears / posteriorly rotated ears
- Mid-facial hypoplasia / short / small midface
- Proptosis / exophthalmos
- Stillbirth / neonatal death

Frequent
- Abnormal vertebral size / shape
- Craniostenosis / craniosynostosis / sutural synostosis
- Dysostosis / chondrodysplasia / osteodysplasia / osteochondrosis / skeletal dysplasia
- Restricted joint mobility / joint stiffness / ankylosis
- Syndactyly of fingers / interdigital palm