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Acrocallosal syndrome

1 OMIM reference -
2 associated genes
19 signs/symptoms

COMMON GENES: 1
COMMON SIGNS: 6

Greig cephalopolysyndactyly syndrome

1 OMIM reference -
1 associated gene
24 signs/symptoms

Acrocallosal syndrome

Greig cephalopolysyndactyly syndrome

GLI3	(UniProt - OMIM)		GLI3	(UniProt - OMIM)
KIF7	(UniProt - OMIM)


COMMON GENES	GLI3

Citations in the biomedical literature:

Acrocallosal syndrome		Greig cephalopolysyndactyly syndrome
	Synonym(s): - ACS		Synonym(s): - GCPS

	Classification (Orphanet): - Rare bone disease - Rare developmental defect during embryogenesis - Rare genetic disease - Rare neurologic 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: (no data available)		Epidemiological data: Class of prevalence: 1-9 / 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		External references: 1 OMIM reference - 1 MeSH reference: C537300


COMMON SIGNS	- Corpus callosum / septum pellucidum total / partial agenesis - Diaphragmatic hernia / defect / agenesis - Hypertelorism - Intellectual deficit / mental / psychomotor retardation / learning disability - Macrocephaly / macrocrania / megalocephaly / megacephaly - Postaxial polydactyly (hand)

Acrocallosal syndrome		Greig cephalopolysyndactyly syndrome
	Very frequent - Autosomal recessive inheritance Frequent - Dandy-Walker anomaly - Fingerlike / triphalangeal thumb - Prominent occiput / occipital bossing - Sloping forehead Occasional - Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia - Clavicle absent / abnormal - Hypospadias / epispadias / bent penis - Inguinal / inguinoscrotal / crural hernia - Large fontanelle / delayed fontanelle closure - Sensorineural deafness / hearing loss - Tall stature / gigantism / growth acceleration - Undescended / ectopic testes / cryptorchidia / unfixed testes		Very frequent - Autosomal dominant inheritance - Preaxial polydactyly of toes / big toe duplication Frequent - Advanced bone age - Broad nose / nasal bridge - Frontal bossing / prominent forehead - High forehead - Syndactyly of fingers / interdigital palm - Syndactyly of toes - Telecanthus / canthal dystopy Occasional - Broad / bifid big toe - Broad / bifid thumb - Craniostenosis / craniosynostosis / sutural synostosis - Hydrocephaly - Insterstitial / subtelomeric microdeletion / deletion - Postaxial polydactyly of toes / fifth supernumerary toe - Preaxial polydactyly (hand) - Seizures / epilepsy / absences / spasms / status epilepticus - Umbilical hernia