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Acrocallosal syndrome
1 OMIM reference -
2 associated genes
19 signs/symptoms
COMMON GENES: 1
Postaxial polydactyly type B, unilateral
1 associated gene
No signs/symptoms info
Acrocallosal syndrome
Postaxial polydactyly type B, unilateral

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

COMMON
GENES 		GLI3


Citations in the biomedical literature:


Acrocallosal syndrome
GLI3 KIF7
Postaxial polydactyly type B, unilateral



Acrocallosal syndrome
Postaxial polydactyly type B, unilateral

Synonym(s):
- ACS
Synonym(s):
(no synonyms)
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:
(no data available)
External references:
1 OMIM reference -
No MeSH references
External references:
No OMIM references
No MeSH references
Acrocallosal syndrome

Very frequent
- Autosomal recessive inheritance
- Corpus callosum / septum pellucidum total / partial agenesis
- Hypertelorism
- Intellectual deficit / mental / psychomotor retardation / learning disability
- Macrocephaly / macrocrania / megalocephaly / megacephaly
- Postaxial polydactyly (hand)

Frequent
- Dandy-Walker anomaly
- Fingerlike / triphalangeal thumb
- Prominent occiput / occipital bossing
- Sloping forehead

Occasional
- Cerebellum / cerebellar vermis anomaly / agenesis / hypoplasia
- Clavicle absent / abnormal
- Diaphragmatic hernia / defect / agenesis
- 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


Postaxial polydactyly type B, unilateral

(no data available)