Cytoscape Web
Click node...


1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 5
2 OMIM references -
3 associated genes
33 signs/symptoms
Greig cephalopolysyndactyly syndrome
X-linked intellectual deficit with marfanoid habitus

GLI3 MED12
UPF3B
ZDHHC9


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GLI3
(0.68)
MED12



Citations in the biomedical literature:


Greig cephalopolysyndactyly syndrome
GLI3
X-linked intellectual deficit with marfanoid habitus
MED12 UPF3B ZDHHC9



Greig cephalopolysyndactyly syndrome
X-linked intellectual deficit with marfanoid habitus

Synonym(s):
- GCPS

Synonym(s):
- Lujan syndrome
- Lujan-Fryns syndrome
- X-linked mental retardation with marfanoid habitus
- XLMR with marfanoid habitus

Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
Classification (Orphanet):
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic 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: unknown
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: x-linked recessive

External references:
1 OMIM reference -
1 MeSH reference: C537300
External references:
2 OMIM references -
No MeSH references


COMMON
SIGNS
- Corpus callosum / septum pellucidum total / partial agenesis
- High forehead
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Seizures / epilepsy / absences / spasms / status epilepticus


Greig cephalopolysyndactyly syndrome
X-linked intellectual deficit with marfanoid habitus

Very frequent
- Autosomal dominant inheritance
- Postaxial polydactyly (hand)
- Preaxial polydactyly of toes / big toe duplication

Frequent
- Advanced bone age
- Broad nose / nasal bridge
- Frontal bossing / prominent forehead
- Hypertelorism
- Syndactyly of fingers / interdigital palm
- Syndactyly of toes
- Telecanthus / canthal dystopy

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Craniostenosis / craniosynostosis / sutural synostosis
- Diaphragmatic hernia / defect / agenesis
- Hydrocephaly
- Insterstitial / subtelomeric microdeletion / deletion
- Postaxial polydactyly of toes / fifth supernumerary toe
- Preaxial polydactyly (hand)
- Umbilical hernia


Very frequent
- Abnormal cry / voice / phonation disorder / nasal speech
- High vaulted / narrow palate
- Hypotonia
- Marfanoid morphotype
- Micrognathia / retrognathia / micrognathism / retrognathism
- Psychic / behavioural troubles
- Scoliosis
- Speech troubles / aphasia / dysphasia / echolalia / mutism / logorrhea / dysprosodia
- Tall stature / gigantism / growth acceleration
- X-linked recessive inheritance

Frequent
- Atrial septal defect / interauricular communication
- Flat cheek bones / malar hypoplasia
- High nasal bridge
- Hyperactivity / attention deficit
- Hyperextensible joints / articular hyperlaxity
- Long hand / arachnodactyly
- Macroorchidism / macrotestes
- Narrow face
- Pectus excavatum
- Short philtrum

Occasional
- Abnormal dentition / dental position / implantation / unerupted / dental ankylosis
- Brachycephaly / flat occiput
- Camptodactyly of some fingers
- Delirium / hallucination
- Low set ears / posteriorly rotated ears
- Prominent / bat ears
- Psychosis / schizophrenia / maniac disorder
- Short hand / brachydactyly