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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 8
1 OMIM reference -
2 associated genes
55 signs/symptoms
Greig cephalopolysyndactyly syndrome
Shprintzen-Goldberg syndrome

GLI3 FBN1
SKI


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GLI3
(0.83)
SKI



Citations in the biomedical literature:


Greig cephalopolysyndactyly syndrome
GLI3
Shprintzen-Goldberg syndrome
FBN1 SKI



Greig cephalopolysyndactyly syndrome
Shprintzen-Goldberg syndrome

Synonym(s):
- GCPS

Synonym(s):
- Marfanoid craniosynostosis syndrome
- SGS

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
- Rare systemic or rheumatologic disease

Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -

Epidemiological data:
Class of prevalence: 1-9 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant
Epidemiological data:
Class of prevalence: <1 / 1 000 000
Average age onset: neonatal/infancy
Average age of death: no data available
Type of inheritance: autosomal dominant

External references:
1 OMIM reference -
1 MeSH reference: C537300
External references:
1 OMIM reference -
1 MeSH reference: C537328


COMMON
SIGNS
- Autosomal dominant inheritance
- Craniostenosis / craniosynostosis / sutural synostosis
- Frontal bossing / prominent forehead
- High forehead
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Telecanthus / canthal dystopy
- Umbilical hernia


Greig cephalopolysyndactyly syndrome
Shprintzen-Goldberg syndrome

Very frequent
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)
- Preaxial polydactyly of toes / big toe duplication

Frequent
- Advanced bone age
- Broad nose / nasal bridge
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Corpus callosum / septum pellucidum total / partial agenesis
- Diaphragmatic hernia / defect / agenesis
- Hydrocephaly
- Insterstitial / subtelomeric microdeletion / deletion
- Postaxial polydactyly of toes / fifth supernumerary toe
- Preaxial polydactyly (hand)
- Seizures / epilepsy / absences / spasms / status epilepticus


Very frequent
- Dolichocephaly / scaphocephaly
- Downslanted palpebral fissures / anti-mongoloid slanting palpebral fissures
- Flat foot
- High vaulted / narrow palate
- Hypotonia
- Long hand / arachnodactyly
- Low set ears / posteriorly rotated ears
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Proptosis / exophthalmos

Frequent
- Aortic valve anomaly / incompetence / insufficiency / regurgitation / bicuspid
- Camptodactyly of some fingers
- Communicating hydrocephaly
- Flexion deformity of toes (excluding big toe) / hammer toe / camptodactyly of toes
- Hyperextensible joints / articular hyperlaxity
- Hypoplastic maxillary bones / zygomatic bones / maxillary hypoplasia
- Inguinal / inguinoscrotal / crural hernia
- Mitral valve prolapse / incompetence / insufficiency / regurgitation / ring anomaly
- Pectus carinatum
- Pectus excavatum
- Ptosis
- Scoliosis
- Strabismus / squint
- Talipes-varus / metatarsal varus

Occasional
- Abnormal vertebral size / shape
- Absent / hypotonic / flaccid abdominal wall muscles
- Anteverted nares / nostrils
- Apnea / sleep apnea
- Arnold-Chiari anomaly
- Bowed diaphysis / diaphyses / long bones
- Conductive deafness / hearing loss
- Dilated cerebral ventricles without hydrocephaly
- Elbow dislocation
- Failure to thrive / difficulties for feeding in infancy / growth delay
- Gastroesophageal reflux / pyrosis / esophagitis / hiatal hernia / gastroparesia
- Genu valgum
- Hyperelastic skin / cutaneous hyperlaxity
- Large fontanelle / delayed fontanelle closure
- Metaphyseal anomaly
- Microcephaly
- Myopia
- Narrow rib cage / thorax
- Osteoporosis / osteopenia / demineralisation / osteomalacia / rickets
- Prominent / bat ears
- Restricted joint mobility / joint stiffness / ankylosis
- Rib number anomalies
- Undescended / ectopic testes / cryptorchidia / unfixed testes