MCID: CRN156
MIFTS: 21

Craniofacioskeletal Syndrome

Categories: Neuronal diseases, Rare diseases

Aliases & Classifications for Craniofacioskeletal Syndrome

MalaCards integrated aliases for Craniofacioskeletal Syndrome:

Name: Craniofacioskeletal Syndrome 56 13 71
X-Linked Intellectual Disability-Craniofacioskeletal Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
x-linked intellectual disability-craniofacioskeletal syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Miscellaneous:
males are more severely affected than females
males died in neonatal period

Inheritance:
x-linked recessive
x-linked dominant


HPO:

31
craniofacioskeletal syndrome:
Inheritance x-linked dominant inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Craniofacioskeletal Syndrome

MalaCards based summary : Craniofacioskeletal Syndrome, also known as x-linked intellectual disability-craniofacioskeletal syndrome, is related to brachydactyly and microcephaly. An important gene associated with Craniofacioskeletal Syndrome is CFSS (Craniofacioskeletal Syndrome). Affiliated tissues include bone, brain and heart, and related phenotypes are pes planus and microcephaly

More information from OMIM: 300712

Related Diseases for Craniofacioskeletal Syndrome

Diseases related to Craniofacioskeletal Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 brachydactyly 10.2
2 microcephaly 10.2

Symptoms & Phenotypes for Craniofacioskeletal Syndrome

Human phenotypes related to Craniofacioskeletal Syndrome:

58 31 (show top 50) (show all 64)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 pes planus 58 31 frequent (33%) Frequent (79-30%) HP:0001763
2 microcephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000252
3 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
4 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
5 thin upper lip vermilion 58 31 frequent (33%) Frequent (79-30%) HP:0000219
6 short philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000322
7 toe clinodactyly 58 31 frequent (33%) Frequent (79-30%) HP:0001863
8 underdeveloped nasal alae 58 31 frequent (33%) Frequent (79-30%) HP:0000430
9 posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000358
10 short 5th finger 58 31 frequent (33%) Frequent (79-30%) HP:0009237
11 short chin 58 31 frequent (33%) Frequent (79-30%) HP:0000331
12 overhanging nasal tip 58 31 frequent (33%) Frequent (79-30%) HP:0011833
13 bilateral ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0001488
14 microtia 58 31 occasional (7.5%) Occasional (29-5%) HP:0008551
15 hydrocephalus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000238
16 anemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001903
17 cleft palate 58 31 occasional (7.5%) Occasional (29-5%) HP:0000175
18 cryptorchidism 58 31 occasional (7.5%) Occasional (29-5%) HP:0000028
19 wide intermamillary distance 58 31 occasional (7.5%) Occasional (29-5%) HP:0006610
20 atrial septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001631
21 respiratory insufficiency 58 31 occasional (7.5%) Occasional (29-5%) HP:0002093
22 thrombocytopenia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001873
23 downslanted palpebral fissures 58 31 occasional (7.5%) Occasional (29-5%) HP:0000494
24 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
25 micropenis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000054
26 choanal atresia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000453
27 patent ductus arteriosus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001643
28 interrupted aortic arch 58 31 occasional (7.5%) Occasional (29-5%) HP:0011611
29 hydronephrosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000126
30 proptosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0000520
31 hypospadias 58 31 occasional (7.5%) Occasional (29-5%) HP:0000047
32 ventricular septal defect 58 31 occasional (7.5%) Occasional (29-5%) HP:0001629
33 hypocalcemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002901
34 broad forehead 58 31 occasional (7.5%) Occasional (29-5%) HP:0000337
35 intracranial hemorrhage 58 31 occasional (7.5%) Occasional (29-5%) HP:0002170
36 capillary hemangioma 58 31 occasional (7.5%) Occasional (29-5%) HP:0005306
37 cerebellar hypoplasia 58 31 occasional (7.5%) Occasional (29-5%) HP:0001321
38 hyperbilirubinemia 58 31 occasional (7.5%) Occasional (29-5%) HP:0002904
39 rocker bottom foot 58 31 occasional (7.5%) Occasional (29-5%) HP:0001838
40 tracheal stenosis 58 31 occasional (7.5%) Occasional (29-5%) HP:0002777
41 aplasia/hypoplasia of the nails 58 31 occasional (7.5%) Occasional (29-5%) HP:0008386
42 absent gallbladder 58 31 occasional (7.5%) Occasional (29-5%) HP:0011467
43 2-3 toe syndactyly 58 31 occasional (7.5%) Occasional (29-5%) HP:0004691
44 long toe 58 31 occasional (7.5%) Occasional (29-5%) HP:0010511
45 heart murmur 58 31 occasional (7.5%) Occasional (29-5%) HP:0030148
46 bulbous tips of toes 58 31 occasional (7.5%) Occasional (29-5%) HP:0001782
47 hyperextensibility of the finger joints 58 31 occasional (7.5%) Occasional (29-5%) HP:0001187
48 broad skull 58 31 occasional (7.5%) Occasional (29-5%) HP:0002682
49 global developmental delay 31 HP:0001263
50 intrauterine growth retardation 31 HP:0001511

Symptoms via clinical synopsis from OMIM:

56
Head And Neck Mouth:
cleft palate
soft tissue growths at angle of mouth (female)
thin upper lip (female)

Genitourinary External Genitalia Male:
hypospadias

Growth Other:
intrauterine growth retardation (male)

Head And Neck Face:
short philtrum (female)
micrognathia (male and female)
triangular face (male)

Head And Neck Eyes:
short palpebral fissure (male)
downslanting palpebral fissure (male)

Cardiovascular Heart:
atrial septal defect (male)
interrupted aortic arch (male)
ventricular septal defect (male)

Respiratory Airways:
tracheal stenosis (male)

Chest Breasts:
widely spaced nipples (male)

Genitourinary Kidneys:
hydronephrosis (male)

Skeletal Pelvis:
narrow iliac wings (female)

Skeletal Hands:
small hands (male and female)
brachydactyly (female)
fifth finger clinodactyly (female)
excessive number of fingerprint arches (female)
cortical thickening of metacarpals (female)

Skin Nails Hair Nails:
small toenails (male)

Prenatal Manifestations Placenta And Umbilical Cord:
two-vessel umbilical cord (male)

Genitourinary Internal Genitalia Male:
cryptorchidism

Growth Height:
short stature (female)

Head And Neck Head:
microcephaly (male and female)
large fontanelles (male and females)

Head And Neck Ears:
small ears (female)
posteriorly rotated ears (female)

Head And Neck Nose:
choanal atresia (male)

Cardiovascular Vascular:
patent ductus arteriosus (male)

Chest External Features:
broad chest (male)

Abdomen Biliary Tract:
absent gallbladder (male)

Skeletal Skull:
widened sutures (male)
absent/hypoplastic frontal sinuses (female)

Skeletal Limbs:
cortical thickening of long bones (female)

Skeletal Feet:
small feet (male and female)
flat feet (female)
small toenails (male)

Neurologic Central Nervous System:
developmental delay (female)
iq 85-115 (female)
cerebellar hypoplasia (male)
decreased brain volume (female)
extra superior temporal gyrus (female)

Laboratory Abnormalities:
hypocalcemia (male)
normal calcium (female)
normal parathyroid hormone (female)
skewed x-inactivation in females

Clinical features from OMIM:

300712

Drugs & Therapeutics for Craniofacioskeletal Syndrome

Search Clinical Trials , NIH Clinical Center for Craniofacioskeletal Syndrome

Genetic Tests for Craniofacioskeletal Syndrome

Anatomical Context for Craniofacioskeletal Syndrome

MalaCards organs/tissues related to Craniofacioskeletal Syndrome:

40
Bone, Brain, Heart

Publications for Craniofacioskeletal Syndrome

Articles related to Craniofacioskeletal Syndrome:

# Title Authors PMID Year
1
Craniofacioskeletal syndrome: an X-linked dominant disorder with early lethality in males. 56 61
17853486 2007

Variations for Craniofacioskeletal Syndrome

Expression for Craniofacioskeletal Syndrome

Search GEO for disease gene expression data for Craniofacioskeletal Syndrome.

Pathways for Craniofacioskeletal Syndrome

GO Terms for Craniofacioskeletal Syndrome

Sources for Craniofacioskeletal Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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