MCID: CRN049
MIFTS: 24

Craniolenticulosutural Dysplasia

Categories: Genetic diseases, Fetal diseases, Rare diseases

Aliases & Classifications for Craniolenticulosutural Dysplasia

MalaCards integrated aliases for Craniolenticulosutural Dysplasia:

Name: Craniolenticulosutural Dysplasia 54 24 56 71 29 13 69
Boyadjiev-Jabs Syndrome 56 71
Cranio-Lenticulo-Sutural Dysplasia 71
Clsd 71

Characteristics:

Orphanet epidemiological data:

56
craniolenticulosutural dysplasia
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
craniolenticulosutural dysplasia:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Craniolenticulosutural Dysplasia

OMIM : 54
Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011). (607812)

MalaCards based summary : Craniolenticulosutural Dysplasia, is also known as boyadjiev-jabs syndrome, and has symptoms including short stature, scoliosis and wide mouth. An important gene associated with Craniolenticulosutural Dysplasia is SEC23A (Sec23 Homolog A, Coat Complex II Component). Affiliated tissues include skin and bone.

UniProtKB/Swiss-Prot : 71 Craniolenticulosutural dysplasia: Autosomal recessive syndrome characterized by late-closing fontanels, sutural cataracts, facial dysmorphisms and skeletal defects.

Wikipedia : 72 Cranio–lenticulo–sutural dysplasia (CLSD, or Boyadjiev-Jabs syndrome) is a neonatal/infancy disease... more...

Related Diseases for Craniolenticulosutural Dysplasia

Symptoms & Phenotypes for Craniolenticulosutural Dysplasia

Symptoms via clinical synopsis from OMIM:

54

Growth- Height:
short stature

Head And Neck- Mouth:
wide mouth
thin upper lip
cleft palate (in some patients)
bifid uvula (in some patients)
anteriorly displaced frenulum linguae (in some patients)

Skeletal:
joint laxity
osteopenia (in some patients)

Head And Neck- Face:
midface hypoplasia
frontal bossing
long, smooth philtrum
prominent supraorbital ridge
forehead hyperpigmentation

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Feet:
flat feet

Head And Neck- Teeth:
delayed eruption
dental caries (secondary teeth)
hypoplastic teeth (secondary teeth)

Skeletal- Skull:
ossification defects

Skin Nails & Hair- Skin:
hyperpigmentation (forehead)
capillary hemangioma (forehead)

Skeletal- Spine:
scoliosis
posterior wedging of vertebral bodies

Head And Neck- Eyes:
hypertelorism
esotropia (in some patients)
y-shaped sutural cataract (in some patients)
punctate lenticular opacities
optic atrophy, bilateral (in some patients)
more
Skin Nails & Hair- Hair:
brittle hair
sparse hair
coarse hair

Head And Neck- Nose:
anteverted nares
broad nasal bridge

Head And Neck- Head:
macrocephaly
large anterior fontanel
delayed closure anterior fontanel

Abdomen- Gastroin testinal:
gastroesophageal reflux (in some patients)

Growth- Other:
failure to thrive, postnatal, due to gastroesophageal reflux (in some patients)

Skeletal- Pelvis:
high, narrow iliac wings


Clinical features from OMIM:

607812

Human phenotypes related to Craniolenticulosutural Dysplasia:

56 32 (show top 50) (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 hallmark (90%) Very frequent (99-80%) HP:0004322
2 scoliosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0002650
3 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
4 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
5 brittle hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002299
6 sparse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0008070
7 large fontanelles 56 32 hallmark (90%) Very frequent (99-80%) HP:0000239
8 frontal bossing 56 32 hallmark (90%) Very frequent (99-80%) HP:0002007
9 narrow chest 56 32 frequent (33%) Frequent (79-30%) HP:0000774
10 thin vermilion border 56 32 hallmark (90%) Very frequent (99-80%) HP:0000233
11 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
12 coarse hair 56 32 hallmark (90%) Very frequent (99-80%) HP:0002208
13 pes planus 56 32 frequent (33%) Frequent (79-30%) HP:0001763
14 high palate 56 32 occasional (7.5%) Occasional (29-5%) HP:0000218
15 joint hyperflexibility 56 32 occasional (7.5%) Occasional (29-5%) HP:0005692
16 smooth philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000319
17 capillary hemangiomas 56 32 frequent (33%) Frequent (79-30%) HP:0005306
18 microdontia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000691
19 prominent nasal bridge 56 32 hallmark (90%) Very frequent (99-80%) HP:0000426
20 skeletal dysplasia 56 32 hallmark (90%) Very frequent (99-80%) HP:0002652
21 wide nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000445
22 prominent supraorbital ridges 56 32 hallmark (90%) Very frequent (99-80%) HP:0000336
23 premature loss of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0006480
24 decreased skull ossification 56 32 hallmark (90%) Very frequent (99-80%) HP:0004331
25 carious teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000670
26 delayed speech and language development 56 32 occasional (7.5%) Occasional (29-5%) HP:0000750
27 delayed eruption of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000684
28 posterior wedging of vertebral bodies 56 32 hallmark (90%) Very frequent (99-80%) HP:0008444
29 hypoplasia of the maxilla 56 32 hallmark (90%) Very frequent (99-80%) HP:0000327
30 hyperpigmentation of the skin 56 32 frequent (33%) Frequent (79-30%) HP:0000953
31 hypoplasia of teeth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000685
32 high iliac wings 56 32 hallmark (90%) Very frequent (99-80%) HP:0008808
33 posterior y-sutural cataract 56 32 hallmark (90%) Very frequent (99-80%) HP:0008031
34 joint laxity 32 HP:0001388
35 cleft palate 32 occasional (7.5%) HP:0000175
36 anteverted nares 32 HP:0000463
37 gastroesophageal reflux 32 occasional (7.5%) HP:0002020
38 cryptorchidism 32 HP:0000028
39 macrocephaly 32 HP:0000256
40 bifid uvula 32 occasional (7.5%) HP:0000193
41 esotropia 32 occasional (7.5%) HP:0000565
42 wide nasal bridge 32 HP:0000431
43 osteopenia 32 occasional (7.5%) HP:0000938
44 midface retrusion 32 HP:0011800
45 wide anterior fontanel 32 HP:0000260
46 narrow iliac wings 32 HP:0002868
47 malar flattening 32 HP:0000272
48 thin upper lip vermilion 32 HP:0000219
49 forehead hyperpigmentation 32 HP:0005336
50 abnormality of skin pigmentation 56 Frequent (79-30%)

UMLS symptoms related to Craniolenticulosutural Dysplasia:


joint laxity

Drugs & Therapeutics for Craniolenticulosutural Dysplasia

Search Clinical Trials , NIH Clinical Center for Craniolenticulosutural Dysplasia

Genetic Tests for Craniolenticulosutural Dysplasia

Genetic tests related to Craniolenticulosutural Dysplasia:

id Genetic test Affiliating Genes
1 Craniolenticulosutural Dysplasia 29 24 SEC23A

Anatomical Context for Craniolenticulosutural Dysplasia

MalaCards organs/tissues related to Craniolenticulosutural Dysplasia:

39
Skin, Bone

Publications for Craniolenticulosutural Dysplasia

Variations for Craniolenticulosutural Dysplasia

UniProtKB/Swiss-Prot genetic disease variations for Craniolenticulosutural Dysplasia:

71
id Symbol AA change Variation ID SNP ID
1 SEC23A p.Phe382Leu VAR_031030 rs118204000

ClinVar genetic disease variations for Craniolenticulosutural Dysplasia:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 SEC23A NM_006364.3(SEC23A): c.1144T> C (p.Phe382Leu) single nucleotide variant Pathogenic rs118204000 GRCh37 Chromosome 14, 39536460: 39536460
2 SEC23A NM_006364.3(SEC23A): c.2104A> G (p.Met702Val) single nucleotide variant Pathogenic rs138568622 GRCh37 Chromosome 14, 39509974: 39509974

Expression for Craniolenticulosutural Dysplasia

Search GEO for disease gene expression data for Craniolenticulosutural Dysplasia.

Pathways for Craniolenticulosutural Dysplasia

GO Terms for Craniolenticulosutural Dysplasia

Sources for Craniolenticulosutural Dysplasia

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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