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Acrocallosal syndrome
1 OMIM reference -
2 associated genes
53 connected diseases
19 signs/symptoms
Disease Type of connection
Greig cephalopolysyndactyly syndrome
Hydrolethalus
Joubert syndrome
Joubert syndrome with ocular defect
Joubert syndrome with orofaciodigital defect
Multiple epiphyseal dysplasia, Al-Gazali type
Pallister-Hall syndrome
Polysyndactyly, bilateral
Polysyndactyly, unilateral
Postaxial polydactyly type A, bilateral
Postaxial polydactyly type A, unilateral
Postaxial polydactyly type B, bilateral
Postaxial polydactyly type B, unilateral
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to CREBBP mutations
Alobar holoprosencephaly
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Lobar holoprosencephaly
Microform holoprosencephaly
Midline interhemispheric variant of holoprosencephaly
Semilobar holoprosencephaly
Septopreoptic holoprosencephaly
1p36 deletion syndrome
Shprintzen-Goldberg syndrome
Double outlet right ventricle
Isolated congenitally uncorrected transposition of the great arteries
Situs ambiguus
Split hand-split foot malformation
Desmoplastic / nodular medulloblastoma
Familial multiple meningioma
Medulloblastoma with extensive nodularity
Blepharophimosis-intellectual deficit syndrome, MKB type
FG syndrome type 1
X-linked intellectual deficit with marfanoid habitus
X-linked non-syndromic intellectual deficit
17p13.3 microduplication syndrome
Anophthalmia / microphthalmia - esophageal atresia
Colobomatous microphthalmia
Distal 17p13.3 microdeletion syndrome
Isolated anophthalmia - microphthalmia
Miller-Dieker syndrome
Septo-optic dysplasia
Aneurysm - osteoarthritis syndrome
Familial pancreatic carcinoma
Familial thoracic aortic aneurysm and aortic dissection
Generalized juvenile polyposis / juvenile polyposis coli
Hereditary hemorrhagic telangiectasia
Isolated brachycephaly
Isolated scaphocephaly
Myhre syndrome
Saethre-Chotzen syndrome
Synonym(s):
- ACS
Classification (Orphanet):
- Rare bone disease
- Rare developmental defect during embryogenesis
- Rare genetic disease
- Rare neurologic disease
Classification (ICD10):
- Congenital malformations, deformations and chromosomal abnormalities -
Epidemiological data:
(no data available)
External references:
1 OMIM reference -
No MeSH references
Gene symbol UniProt reference OMIM reference
GLI3 P10071165240
KIF7 Q2M1P5611254
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