Craniosynostosis and dental anomalies

General Information (adopted from Orphanet):

Synonyms, Signs: CRSDA
kreiborg-pakistani syndrome
Number of Symptoms 39
OrphanetNr: 284149
OMIM Id: 614188
ICD-10: Q87.0
UMLs:
MeSH:
MedDRA:
Snomed:

Prevalence, inheritance and age of onset:

Prevalence: No data available.
Inheritance: Autosomal recessive
[Orphanet]
Age of onset: Neonatal
Infancy
[Orphanet]

Disease classification (adopted from Orphanet):

Parent Diseases: Genetic malformation syndrome with odontal and/or periodontal component
 -Rare genetic disease
Malformation syndrome with odontal and/or periodontal component
 -Rare developmental defect during embryogenesis
 -Rare odontologic disease
Syndromic craniosynostosis
 -Rare bone disease
 -Rare developmental defect during embryogenesis
 -Rare genetic disease

Symptom Information: Sort by abundance 

1
 (HPO:0000248) Brachycephaly rare [HPO:skoehler] 222 / 7739
2
 (HPO:0000327) Hypoplasia of the maxilla 129 / 7739
3
 (HPO:0000262) Turricephaly rare [HPO:skoehler] 38 / 7739
4
 (HPO:0000243) Trigonocephaly rare [HPO:skoehler] 40 / 7739
5
 (HPO:0011069) Increased number of teeth rare [HPO:skoehler] 39 / 7739
6
 (HPO:0004442) Sagittal craniosynostosis 16 / 7739
7
 (HPO:0000684) Delayed eruption of teeth 117 / 7739
8
 (HPO:0000268) Dolichocephaly rare [HPO:skoehler] 144 / 7739
9
 (HPO:0004440) Coronal craniosynostosis 38 / 7739
10
 (HPO:0004443) Lambdoidal craniosynostosis rare [HPO:skoehler] 15 / 7739
11
 (HPO:0011067) Mesiodens 3 / 7739
12
 (HPO:0000316) Hypertelorism rare [HPO:skoehler] 644 / 7739
13
 (HPO:0001085) Papilledema 31 / 7739
14
 (HPO:0001822) Hallux valgus rare [HPO:skoehler] 70 / 7739
15
 (HPO:0001761) Pes cavus 225 / 7739
16
 (HPO:0001831) Short toe 52 / 7739
17
 (HPO:0009700) Finger symphalangism 55 / 7739
18
 (HPO:0004691) 2-3 toe syndactyly 50 / 7739
19
 (HPO:0001765) Hammertoe 63 / 7739
20
 (HPO:0001770) Toe syndactyly 149 / 7739
21
 (HPO:0001159) Syndactyly rare [HPO:skoehler] 140 / 7739
22
 (HPO:0009803) Short phalanx of finger rare [HPO:skoehler] 79 / 7739
23
 (HPO:0010621) Cutaneous syndactyly of toes 36 / 7739
24
 (HPO:0001838) Rocker bottom foot 85 / 7739
25
 (HPO:0001763) Pes planus 176 / 7739
26
 (HPO:0100798) Fingernail dysplasia rare [HPO:skoehler] 1 / 7739
27
 (OMIM) Lambdoid suture synostosis (in some patients) 1 / 7739
28
 (OMIM) Exorbitism 2 / 7739
29
 (OMIM) Metopic suture synostosis 1 / 7739
30
 (OMIM) Ectopic eruption 1 / 7739
31
 (OMIM) Sloping or flat forehead 1 / 7739
32
 (OMIM) Coronal suture synostosis 1 / 7739
33
 (OMIM) Syndactyly of second and third toes, mild (in some patients) 1 / 7739
34
 (MedDRA:10058668) Clinodactyly 91 / 7739
35
 (OMIM) Broad first toe 3 / 7739
36
 (OMIM) Class III malocclusion (rare) 3 / 7739
37
 (HPO:0000007) Autosomal recessive inheritance 2538 / 7739
38
 (HPO:0030084) Clinodactyly rare [HPO:skoehler] 90 / 7739
39
 (OMIM) Sagittal suture synostosis 2 / 7739

Associated genes:

ClinVar (via SNiPA)

Gene symbol Variation Clinical significance Reference

Additional Information:

Description: (OMIM) This autosomal recessive disorder is characterized by craniosynostosis, maxillary hypoplasia, and dental anomalies, including malocclusion, delayed and ectopic tooth eruption, and/or supernumerary teeth. Some patients also display minor digit anomalies, such as syndactyly and/or clinodactyly (summary by Nieminen ...
Clinical Description OMIM Nieminen et al. (2011) studied 3 consanguineous families of Pakistani origin and 2 families of northern European origin in which affected children had craniosynostosis involving the metopic, coronal, sagittal, and/or lambdoid sutures, maxillary hypoplasia, and variable dental anomalies. ...
Molecular genetics OMIM In a consanguineous Pakistani family ('family 1') segregating autosomal recessive craniosynostosis and dental anomalies mapping to chromosome 9p21.3-q21.13, Nieminen et al. (2011) sequenced 11 candidate genes and identified homozygosity for a missense mutation in the IL11RA gene (600939.0001) ...