Acrocallosal syndrome

General Information (adopted from Orphanet):

Synonyms, Signs: JBTS12, INCLUDED
SCHINZEL ACROCALLOSAL SYNDROME JOUBERT SYNDROME 12, INCLUDED
JOUBERT SYNDROME 12/15, DIGENIC, INCLUDED
HALLUX DUPLICATION, POSTAXIAL POLYDACTYLY, AND ABSENCE OF CORPUS CALLOSUM
ACS
ACLS
Number of Symptoms 90
OrphanetNr: 36
OMIM Id: 200990
ICD-10: Q04.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 34 cases [Orphanet]
Inheritance: Autosomal dominant
Autosomal recessive
[Omim]
Age of onset: Neonatal
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome-intellectual deficit
 -Rare developmental defect during embryogenesis
 -Rare genetic disease
Rare genetic intellectual deficit with developmental anomaly
 -Rare genetic disease
Rare intellectual deficit with developmental anomaly
 -Rare neurologic disease
Syndrome with corpus callosum agenesis /dysgenesis as a major feature
 -Rare developmental defect during embryogenesis
 -Rare neurologic disease
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
 -Rare bone disease
 -Rare developmental defect during embryogenesis

Symptom Information: Sort by abundance 

1
 (HPO:0000143) Rectovaginal fistula 18 / 7739
2
 (HPO:0000047) Hypospadias Occasional [Orphanet] 10/18 [HPO] 1491747 IBIS 250 / 7739
3
 (HPO:0000028) Cryptorchidism occasional [HPO] 19619433 IBIS 347 / 7739
4
 (HPO:0000035) Abnormality of the testis Occasional [Orphanet] 296 / 7739
5
 (HPO:0000054) Micropenis occasional [HPO] 19619433 IBIS 257 / 7739
6
 (HPO:0000343) Long philtrum 9% [HPO] 19619433 IBIS 262 / 7739
7
 (HPO:0000286) Epicanthus typical [HPO] 19619433 IBIS 371 / 7739
8
 (HPO:0000308) Microretrognathia 14% [HPO] 19619433 IBIS 78 / 7739
9
 (HPO:0000269) Prominent occiput Frequent [Orphanet] 43 / 7739
10
 (HPO:0003196) Short nose typical [HPO] 19619433 IBIS 264 / 7739
11
 (HPO:0000322) Short philtrum 31% [HPO] 19619433 IBIS 130 / 7739
12
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 24/26 [HPO] 1491747 IBIS 644 / 7739
13
 (HPO:0000260) Wide anterior fontanel typical [HPO] 19619433 IBIS 55 / 7739
14
 (HPO:0000256) Macrocephaly Very frequent [Orphanet] 25/27 [HPO] 1491747 IBIS 298 / 7739
15
 (HPO:0000175) Cleft palate 21% [HPO] 19619433 IBIS 349 / 7739
16
 (HPO:0000233) Thin vermilion border 9% [HPO] 19619433 IBIS 124 / 7739
17
 (HPO:0000319) Smooth philtrum 2% [HPO] 19619433 IBIS 72 / 7739
18
 (HPO:0011220) Prominent forehead 137 / 7739
19
 (HPO:0000218) High palate 31% [HPO] 19619433 IBIS 356 / 7739
20
 (HPO:0000337) Broad forehead typical [HPO] 19619433 IBIS 116 / 7739
21
 (HPO:0002007) Frontal bossing 23/26 [HPO] 1491747 IBIS 366 / 7739
22
 (HPO:0000431) Wide nasal bridge 24/26 [HPO] 1491747 IBIS 290 / 7739
23
 (HPO:0000494) Downslanted palpebral fissures typical [HPO] 19619433 IBIS 328 / 7739
24
 (HPO:0000340) Sloping forehead Frequent [Orphanet] 86 / 7739
25
 (HPO:0000194) Open mouth 16% [HPO] 19619433 IBIS 70 / 7739
26
 (HPO:0000685) Hypoplasia of teeth 2% [HPO] 19619433 IBIS 12 / 7739
27
 (HPO:0000204) Cleft upper lip 21% [HPO] 19619433 IBIS 193 / 7739
28
 (HPO:0001305) Dandy-Walker malformation Frequent [Orphanet] 79 / 7739
29
 (HPO:0000239) Large fontanelles Occasional [Orphanet] 135 / 7739
30
 (HPO:0000207) Triangular mouth 8 / 7739
31
 (HPO:0000639) Nystagmus occasional [HPO] 19619433 IBIS 555 / 7739
32
 (HPO:0000648) Optic atrophy rare [HPO] 238 / 7739
33
 (HPO:0000589) Coloboma rare [HPO:skoehler] 47 / 7739
34
 (HPO:0000486) Strabismus occasional [HPO] 19619433 IBIS 576 / 7739
35
 (HPO:0007894) Hypopigmentation of the fundus 14 / 7739
36
 (HPO:0000407) Sensorineural hearing impairment Occasional [Orphanet] 524 / 7739
37
 (HPO:0000358) Posteriorly rotated ears occasional [HPO] 19619433 IBIS 163 / 7739
38
 (HPO:0000365) Hearing impairment occasional [HPO] 19619433 IBIS 539 / 7739
39
 (HPO:0000377) Abnormality of the pinna 19/23 [HPO] 1491747 IBIS 111 / 7739
40
 (HPO:0000384) Preauricular skin tag typical [HPO] 19619433 IBIS 62 / 7739
41
 (HPO:0001249) Intellectual disability 23/25 [HPO] 1491747 IBIS 1089 / 7739
42
 (HPO:0010864) Intellectual disability, severe 120 / 7739
43
 (HPO:0001250) Seizures 9/27 [HPO] 1491747 IBIS 1245 / 7739
44
 (HPO:0001830) Postaxial foot polydactyly hallmark [HPO] 19619433 IBIS 37 / 7739
45
 (HPO:0004209) Clinodactyly of the 5th finger 288 / 7739
46
 (HPO:0010066) Duplication of phalanx of hallux hallmark [HPO] 19619433 IBIS 9 / 7739
47
 (HPO:0006660) Aplastic clavicles Occasional [Orphanet] 70 / 7739
48
 (HPO:0001770) Toe syndactyly frequent [HPO] 19619433 IBIS 149 / 7739
49
 (HPO:0009611) Bifid distal phalanx of the thumb 15 / 7739
50
 (HPO:0001182) Tapered finger occasional [HPO] 19619433 IBIS 93 / 7739
51
 (HPO:0001841) Preaxial foot polydactyly hallmark [HPO] 19619433 IBIS 24 / 7739
52
 (HPO:0001162) Postaxial hand polydactyly Very frequent [Orphanet] hallmark [HPO] 19619433 IBIS 119 / 7739
53
 (HPO:0001156) Brachydactyly syndrome 180 / 7739
54
 (HPO:0001177) Preaxial hand polydactyly hallmark [HPO] 19619433 IBIS 59 / 7739
55
 (HPO:0006101) Finger syndactyly frequent [HPO] 19619433 IBIS 198 / 7739
56
 (HPO:0009942) Duplication of thumb phalanx hallmark [HPO] 19619433 IBIS 2 / 7739
57
 (HPO:0002023) Anal atresia 135 / 7739
58
 (HPO:0004299) Hernia of the abdominal wall Occasional [Orphanet] 176 / 7739
59
 (HPO:0000775) Abnormality of the diaphragm Occasional [Orphanet] 62 / 7739
60
 (HPO:0001537) Umbilical hernia frequent [HPO] 19619433 IBIS 206 / 7739
61
 (HPO:0000023) Inguinal hernia frequent [HPO] 19619433 IBIS 181 / 7739
62
 (HPO:0001510) Growth delay common [HPO] 19619433 IBIS 295 / 7739
63
 (HPO:0001508) Failure to thrive common [HPO] 19619433 IBIS 454 / 7739
64
 (HPO:0000098) Tall stature Occasional [Orphanet] 74 / 7739
65
 (HPO:0008897) Postnatal growth retardation 113 / 7739
66
 (HPO:0005148) Pulmonary valve defects 1 / 7739
67
 (HPO:0001671) Abnormality of the cardiac septa 55 / 7739
68
 (HPO:0001290) Generalized hypotonia 20/23 [HPO] 1491747 IBIS 51 / 7739
69
 (HPO:0010547) Muscle flaccidity 466 / 7739
70
 (HPO:0001252) Muscular hypotonia 990 / 7739
71
 (HPO:0008947) Infantile muscular hypotonia 482 / 7739
72
 (HPO:0001324) Muscle weakness 859 / 7739
73
 (HPO:0010576) Intracranial cystic lesion 10/27 [HPO] 1491747 IBIS 2 / 7739
74
 (OMIM) Duplicated halluces 2 / 7739
75
 (HPO:0012758) Neurodevelopmental delay Very frequent [Orphanet] 949 / 7739
76
 (HPO:0000006) Autosomal dominant inheritance 2518 / 7739
77
 (HPO:0002334) Abnormality of the cerebellar vermis Occasional [Orphanet] 137 / 7739
78
 (Orphanet:9200) Protruding lips 4 / 7739
79
 (OMIM) Molar tooth sign on brain MRI 2 / 7739
80
 (HPO:0007370) Aplasia/Hypoplasia of the corpus callosum Very frequent [Orphanet] obligate [HPO] 180 / 7739
81
 (HPO:0003812) Phenotypic variability 129 / 7739
82
 (OMIM) Deep-set ears 1 / 7739
83
 (HPO:0001199) Triphalangeal thumb Frequent [Orphanet] 56 / 7739
84
 (HPO:0001274) Agenesis of corpus callosum 142 / 7739
85
 (HPO:0001425) Heterogeneous 132 / 7739
86
 (MedDRA:10072883) Brachydactyly 153 / 7739
87
 (OMIM) Polydactyly, preaxial or postaxial 4 / 7739
88
 (OMIM) Hypoplastic midface 2 / 7739
89
 (HPO:0030680) Abnormality of cardiovascular system morphology 5/22 [HPO] 355 / 7739
90
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739

Associated genes:

KIF7;

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) 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 ...
Clinical Description OMIM Schinzel and Schmid (1980) reported 2 unrelated patients, a 2.5-year-old girl and a 4-year-old boy, with postaxial polydactyly, hallux duplication, macrocephaly, absence of corpus callosum, and severe mental retardation. The boy had previously been reported by Schinzel (1979). ...
Molecular genetics OMIM By genomewide linkage analysis followed by candidate gene sequencing, Putoux et al. (2011) identified 3 nonsense and 5 frameshift mutations in the KIF7 gene (see, e.g., 611254.0001-611254.0005) in ACLS patients from 6 families and in 2 individual patients. ...