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1 OMIM reference -
1 associated gene
24 signs/symptoms
PROTEIN INTERACTIONS: 1
COMMON SIGNS: 2
6 OMIM references -
5 associated genes
9 signs/symptoms
Greig cephalopolysyndactyly syndrome
Split hand-split foot malformation

GLI3 BTRC
FBXW4
SHFM1
TP63
WNT10B


INTERACTOME
ASSOCIATIONS

(click on a score value to see the evidence)
GLI3
(0.78)
BTRC



Citations in the biomedical literature:


Greig cephalopolysyndactyly syndrome
GLI3
Split hand-split foot malformation
BTRC FBXW4 SHFM1 TP63 WNT10B



Greig cephalopolysyndactyly syndrome
Split hand-split foot malformation

Synonym(s):
- GCPS

Synonym(s):
- Ectrodactyly
- Lobster-claw deformity
- SHFM
- Split hand foot malformation

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

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: 1-9 / 100 000
Average age onset: neonatal/infancy
Average age of death: -
Type of inheritance: autosomal dominant

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


COMMON
SIGNS
- Autosomal dominant inheritance
- Syndactyly of fingers / interdigital palm


Greig cephalopolysyndactyly syndrome
Split hand-split foot malformation

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

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

Occasional
- Broad / bifid big toe
- Broad / bifid thumb
- Corpus callosum / septum pellucidum total / partial agenesis
- Craniostenosis / craniosynostosis / sutural synostosis
- Diaphragmatic hernia / defect / agenesis
- Hydrocephaly
- Insterstitial / subtelomeric microdeletion / deletion
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Postaxial polydactyly of toes / fifth supernumerary toe
- Preaxial polydactyly (hand)
- Seizures / epilepsy / absences / spasms / status epilepticus
- Umbilical hernia


Very frequent
- Oligodactyly / ectrodactyly of fingers

Occasional
- Aniridia / iris hypoplasia
- Autosomal recessive inheritance
- Hand agenesis / absence
- Sensorineural deafness / hearing loss
- Trident hand / split hand / abnormal median ray
- X-linked recessive inheritance