Craniolenticulosutural dysplasia

General Information (adopted from Orphanet):

Synonyms, Signs: CLSD
boyadjiev-jabs syndrome
Number of Symptoms 66
OrphanetNr: 50814
OMIM Id: 607812
ICD-10: Q75.8
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: 28 cases [Orphanet]
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare genetic disease
Multiple congenital anomalies/dysmorphic syndrome without intellectual deficit
 -Rare developmental defect during embryogenesis
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000028) Cryptorchidism 347 / 7739
2
 (HPO:0000035) Abnormality of the testis Frequent [Orphanet] 296 / 7739
3
 (HPO:0000336) Prominent supraorbital ridges Very frequent [Orphanet] 45 / 7739
4
 (HPO:0004331) Decreased skull ossification Very frequent [Orphanet] 31 / 7739
5
 (HPO:0000272) Malar flattening 277 / 7739
6
 (HPO:0000154) Wide mouth Very frequent [Orphanet] 137 / 7739
7
 (HPO:0000316) Hypertelorism Very frequent [Orphanet] 644 / 7739
8
 (HPO:0001476) Delayed closure of the anterior fontanelle 23 / 7739
9
 (HPO:0000288) Abnormality of the philtrum Very frequent [Orphanet] 54 / 7739
10
 (HPO:0000463) Anteverted nares 305 / 7739
11
 (HPO:0000327) Hypoplasia of the maxilla Very frequent [Orphanet] 129 / 7739
12
 (HPO:0000445) Wide nose Very frequent [Orphanet] 190 / 7739
13
 (HPO:0000260) Wide anterior fontanel 55 / 7739
14
 (HPO:0002705) High, narrow palate Occasional [Orphanet] 308 / 7739
15
 (HPO:0000426) Prominent nasal bridge Very frequent [Orphanet] 121 / 7739
16
 (HPO:0000256) Macrocephaly 298 / 7739
17
 (HPO:0000691) Microdontia Very frequent [Orphanet] 104 / 7739
18
 (HPO:0000193) Bifid uvula rare [HPO:skoehler] 66 / 7739
19
 (HPO:0000670) Carious teeth Very frequent [Orphanet] 145 / 7739
20
 (HPO:0000684) Delayed eruption of teeth Very frequent [Orphanet] 117 / 7739
21
 (HPO:0000431) Wide nasal bridge 290 / 7739
22
 (HPO:0000219) Thin upper lip vermilion 112 / 7739
23
 (HPO:0000175) Cleft palate rare [HPO:skoehler] 349 / 7739
24
 (HPO:0011800) Midface retrusion 221 / 7739
25
 (HPO:0000239) Large fontanelles Very frequent [Orphanet] 135 / 7739
26
 (HPO:0000685) Hypoplasia of teeth 12 / 7739
27
 (HPO:0000233) Thin vermilion border Very frequent [Orphanet] 124 / 7739
28
 (HPO:0002007) Frontal bossing Very frequent [Orphanet] 366 / 7739
29
 (HPO:0000319) Smooth philtrum 72 / 7739
30
 (HPO:0000343) Long philtrum Very frequent [Orphanet] 262 / 7739
31
 (HPO:0009804) Reduced number of teeth Very frequent [Orphanet] 137 / 7739
32
 (HPO:0000486) Strabismus 576 / 7739
33
 (HPO:0010695) Sutural cataract 3 / 7739
34
 (HPO:0000565) Esotropia rare [HPO:skoehler] 58 / 7739
35
 (HPO:0007648) Punctate cataract 2 / 7739
36
 (HPO:0000518) Cataract Very frequent [Orphanet] 454 / 7739
37
 (HPO:0002167) Neurological speech impairment Occasional [Orphanet] 308 / 7739
38
 (HPO:0001382) Joint hypermobility Occasional [Orphanet] 231 / 7739
39
 (HPO:0008808) High iliac wings 2 / 7739
40
 (HPO:0002650) Scoliosis Very frequent [Orphanet] 705 / 7739
41
 (HPO:0000938) Osteopenia rare [HPO:skoehler] 138 / 7739
42
 (HPO:0001763) Pes planus Frequent [Orphanet] 176 / 7739
43
 (HPO:0001388) Joint laxity 117 / 7739
44
 (HPO:0003312) Abnormal form of the vertebral bodies Very frequent [Orphanet] 172 / 7739
45
 (HPO:0000774) Narrow chest Frequent [Orphanet] 167 / 7739
46
 (HPO:0011867) Abnormality of the wing of the ilium Very frequent [Orphanet] 123 / 7739
47
 (HPO:0002868) Narrow iliac wings 15 / 7739
48
 (HPO:0008444) Posterior wedging of vertebral bodies 1 / 7739
49
 (HPO:0002020) Gastroesophageal reflux rare [HPO:skoehler] 101 / 7739
50
 (HPO:0004322) Short stature Very frequent [Orphanet] 1232 / 7739
51
 (HPO:0005306) Capillary hemangiomas 8 / 7739
52
 (HPO:0008070) Sparse hair 94 / 7739
53
 (HPO:0002208) Coarse hair Very frequent [Orphanet] 58 / 7739
54
 (HPO:0001052) Nevus flammeus Frequent [Orphanet] 88 / 7739
55
 (HPO:0005336) Forehead hyperpigmentation 1 / 7739
56
 (HPO:0001006) Hypotrichosis Very frequent [Orphanet] 219 / 7739
57
 (HPO:0001000) Abnormality of skin pigmentation Frequent [Orphanet] 105 / 7739
58
 (HPO:0002299) Brittle hair Very frequent [Orphanet] 52 / 7739
59
 (OMIM) Failure to thrive, postnatal, due to gastroesophageal reflux (in some patients) 1 / 7739
60
 (OMIM) Optic atrophy, bilateral (in some patients) 1 / 7739
61
 (OMIM) Y-shaped sutural cataract 2 / 7739
62
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
63
 (OMIM) Ossification defects 3 / 7739
64
 (OMIM) Hyperpigmentation 24 / 7739
65
 (OMIM) Double-ring sign of lens (in some patients) 1 / 7739
66
 (OMIM) Long smooth philtrum 9 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) Craniolenticulosutural dysplasia is an autosomal recessive disorder characterized by facial dysmorphism, late-closing fontanels, cataract, and skeletal defects (summary by Boyadjiev et al., 2011).
Clinical Description OMIM Boyadjiev et al. (2003) suggested the designation craniolenticulosutural dysplasia (CLSD) for a dysmorphic syndrome in 5 males and 1 female in an inbred Saudi Arabian family. The craniofacial features included wide open calvarial sutures with large and late-closing ...
Molecular genetics OMIM In affected members of a Saudi Arabian family with CLSD, Boyadjiev et al. (2006) identified a homozygous missense mutation in the SEC23A gene (F382L; 610511.0001). SEC23A is an essential component of the COPII-coated vesicles that transport secretory proteins ...