Acrocallosal syndrome

Preferred Label : Acrocallosal syndrome;

Symbol : ACLS;

CISMeF acronym : ACLS; JBTS12;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Hallux duplication, postaxial polydactyly, and absence of corpus callosum; Schinzel acrocallosal syndrome;

Included titles and symbols : Joubert syndrome 12; Joubert syndrome 12/15, digenic; JBTS12;

Description : The acrocallosal syndrome is an autosomal recessive mental retardation syndrome with brain abnormalities such as corpus callosum agenesis and/or Dandy-Walker malformation as well as dysmorphic features, postaxial polydactyly of the hands, and preaxial polydactyly of the feet (Schinzel and Schmid, 1980). It is considered a ciliopathy (Putoux et al., 2011). Joubert syndrome-12 is a disorder with an overlapping phenotype characterized by the hallmark finding of the molar tooth sign (MTS) on brain MRI. For a phenotypic description and a discussion of genetic heterogeneity of Joubert syndrome, see 213300. Hydrolethalus-2 (HLS2; 614120) is an allelic disorder with a more severe phenotype and death in utero.;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the kinesin family member 7 gene (KIF7, 611254.0001);

Prefixed ID : #200990;

Details

Origin ID

200990;

UMLS CUI

C0796147;

Automatic exact mappings (from CISMeF team)
- GLI family zinc finger 3 [ORDO Gene]
- GLI family zinc finger 3 [HGNC gene]
- acrocallosal syndrome [HGNC gene]
- advanced cardiac life support [MeSH Descriptor]
- kinesin family member 7 [ORDO Gene]
- sacsin molecular chaperone [ORDO Gene]
Currated CISMeF NLP mapping
- Acrocallosal Syndrome [NCIt concept]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome [ORDO Disease]
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
- Acrocallosal syndrome, Schinzel type [MedDRA LLT]
- Acrocallosal syndrome, Schinzel type [MeSH concept]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]
- acrocallosal syndrome [MeSH Descriptor]
- acrocallosal syndrome [MeSH concept]
- acrocallosal syndrome, schinzel type [MeSH Supplementary Concept]
DO Cross reference
- acrocallosal syndrome [DO Concept]
Genes related to phenotype
- Kinesin family member 7 [OMIM gene]
HPO term(s)
- Abnormal cardiac septum morphology [HPO term]
- Abnormal pulmonary valve morphology [HPO term]
- Abnormality of cardiovascular system morphology [HPO term]
- Abnormality of the pinna [HPO term]
- Agenesis of corpus callosum [HPO term]
- Anal atresia [HPO term]
- Aplasia/Hypoplasia of the corpus callosum [HPO term]
- Autosomal recessive inheritance [HPO term]
- Bifid distal phalanx of the thumb [HPO term]
- Brachydactyly [HPO term]
- Broad forehead [HPO term]
- Cleft palate [HPO term]
- Cleft upper lip [HPO term]
- Clinodactyly of the 5th finger [HPO term]
- Coloboma [HPO term]
- Cryptorchidism [HPO term]
- Downslanted palpebral fissures [HPO term]
- Duplication of phalanx of hallux [HPO term]
- Duplication of thumb phalanx [HPO term]
- Epicanthus [HPO term]
- Failure to thrive [HPO term]
- Finger syndactyly [HPO term]
- Frontal bossing [HPO term]
- Generalized hypotonia [HPO term]
- Growth delay [HPO term]
- Hearing impairment [HPO term]
- Heterogeneous [HPO term]
- High palate [HPO term]
- High-arched palate [HPO term]
- Hypertelorism [HPO term]
- Hypopigmentation of the fundus [HPO term]
- Hypoplasia of teeth [HPO term]
- Hypospadias [HPO term]
- Hypotonia [HPO term]
- Inguinal hernia [HPO term]
- Intellectual disability [HPO term]
- Intellectual disability, severe [HPO term]
- Intracranial cystic lesion [HPO term]
- Long philtrum [HPO term]
- Low-set ears [HPO term]
- Macrocephaly [HPO term]
- Micropenis [HPO term]
- Microretrognathia [HPO term]
- Nystagmus [HPO term]
- Open mouth [HPO term]
- Optic atrophy [HPO term]
- Postaxial foot polydactyly [HPO term]
- Postaxial hand polydactyly [HPO term]
- Posteriorly rotated ears [HPO term]
- Postnatal growth retardation [HPO term]
- Preauricular skin tag [HPO term]
- Preaxial foot polydactyly [HPO term]
- Preaxial hand polydactyly [HPO term]
- Prominent forehead [HPO term]
- Prominent occiput [HPO term]
- Pulmonary valve defects [HPO term]
- Rectovaginal fistula [HPO term]
- Seizure [HPO term]
- Short nose [HPO term]
- Short philtrum [HPO term]
- Smooth philtrum [HPO term]
- Strabismus [HPO term]
- Tapered finger [HPO term]
- Thin lips [HPO term]
- Thin vermilion border [HPO term]
- Toe syndactyly [HPO term]
- Triangular mouth [HPO term]
- Umbilical hernia [HPO term]
- Wide anterior fontanel [HPO term]
- Wide nasal bridge [HPO term]
ORDO concept(s)
- Acrocallosal syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Acrocallosal Syndrome [NCIt concept]
- Acrocallosal syndrome [MedDRA Preferred Term]
- Acrocallosal syndrome (disorder) [SNOMED CT concept]
- acrocallosal syndrome [MeSH Descriptor]
- acrocallosal syndrome [MeSH concept]
- acrocallosal syndrome [DO Concept]
- acrocallosal syndrome [Disease (Nov.)]
Validated automatic mappings to NTBT
- Acrocallosal syndrome [ICD-11 More detail]

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