MCID: SCR025
MIFTS: 24

Scarf Syndrome

Categories: Bone diseases, Fetal diseases, Neuronal diseases, Rare diseases, Reproductive diseases, Skin diseases

Aliases & Classifications for Scarf Syndrome

MalaCards integrated aliases for Scarf Syndrome:

Name: Scarf Syndrome 58 77 54 60 74
Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, and Facial Abnormalities 58 54

Characteristics:

Orphanet epidemiological data:

60
scarf syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

58
Inheritance:
x-linked recessive

Miscellaneous:
scarf is an acronym - skeletal abnormalities, cutis laxa/craniosynostosis, ambiguous genitalia, retardation, and facial abnormalities


HPO:

33
scarf syndrome:
Inheritance x-linked recessive inheritance


Classifications:



Summaries for Scarf Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 3134Disease definitionSCARF syndrome is characterised by the association of skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, psychomotor retardation and facial abnormalities. So far, it has been described in two males (maternal first cousins). The mode of inheritance was suggested to be X-linked recessive.Visit the Orphanet disease page for more resources.

MalaCards based summary : Scarf Syndrome, also known as skeletal abnormalities, cutis laxa, craniostenosis, ambiguous genitalia, retardation, and facial abnormalities, is related to craniosynostosis 1 and cutis laxa. Affiliated tissues include skin and bone, and related phenotypes are short neck and ptosis

Wikipedia : 77 SCARF syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis,... more...

Description from OMIM: 312830

Related Diseases for Scarf Syndrome

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

# Related Disease Score Top Affiliating Genes
1 craniosynostosis 1 10.0
2 cutis laxa 10.0

Symptoms & Phenotypes for Scarf Syndrome

Human phenotypes related to Scarf Syndrome:

60 33 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 60 33 frequent (33%) Frequent (79-30%) HP:0000470
2 ptosis 60 33 frequent (33%) Frequent (79-30%) HP:0000508
3 inguinal hernia 60 33 frequent (33%) Frequent (79-30%) HP:0000023
4 coarse facial features 60 33 frequent (33%) Frequent (79-30%) HP:0000280
5 pectus carinatum 60 33 frequent (33%) Frequent (79-30%) HP:0000768
6 umbilical hernia 60 33 frequent (33%) Frequent (79-30%) HP:0001537
7 intellectual disability, mild 60 33 frequent (33%) Frequent (79-30%) HP:0001256
8 long philtrum 60 33 frequent (33%) Frequent (79-30%) HP:0000343
9 strabismus 60 33 frequent (33%) Frequent (79-30%) HP:0000486
10 joint hyperflexibility 60 33 frequent (33%) Frequent (79-30%) HP:0005692
11 epicanthus 60 33 frequent (33%) Frequent (79-30%) HP:0000286
12 abnormal form of the vertebral bodies 60 33 frequent (33%) Frequent (79-30%) HP:0003312
13 cryptorchidism 60 33 frequent (33%) Frequent (79-30%) HP:0000028
14 short sternum 60 33 frequent (33%) Frequent (79-30%) HP:0000879
15 wide intermamillary distance 60 33 frequent (33%) Frequent (79-30%) HP:0006610
16 webbed neck 60 33 frequent (33%) Frequent (79-30%) HP:0000465
17 low posterior hairline 60 33 frequent (33%) Frequent (79-30%) HP:0002162
18 low-set, posteriorly rotated ears 60 33 frequent (33%) Frequent (79-30%) HP:0000368
19 downslanted palpebral fissures 60 33 frequent (33%) Frequent (79-30%) HP:0000494
20 craniosynostosis 60 33 frequent (33%) Frequent (79-30%) HP:0001363
21 bifid scrotum 60 33 frequent (33%) Frequent (79-30%) HP:0000048
22 sparse hair 60 33 frequent (33%) Frequent (79-30%) HP:0008070
23 diastasis recti 60 33 frequent (33%) Frequent (79-30%) HP:0001540
24 micropenis 60 33 frequent (33%) Frequent (79-30%) HP:0000054
25 hypocalcification of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0011084
26 perineal hypospadias 60 33 frequent (33%) Frequent (79-30%) HP:0000051
27 wide nasal base 60 33 frequent (33%) Frequent (79-30%) HP:0012810
28 hypoplasia of dental enamel 60 33 frequent (33%) Frequent (79-30%) HP:0006297
29 cutis laxa 60 33 frequent (33%) Frequent (79-30%) HP:0000973
30 hepatocellular adenoma 60 33 frequent (33%) Frequent (79-30%) HP:0012028
31 intellectual disability, moderate 60 33 occasional (7.5%) Occasional (29-5%) HP:0002342
32 hypoplastic nipples 60 33 occasional (7.5%) Occasional (29-5%) HP:0002557
33 low-set ears 33 HP:0000369
34 intellectual disability 33 HP:0001249
35 wide nasal bridge 33 HP:0000431
36 thickened nuchal skin fold 33 HP:0000474
37 prominent nasal bridge 33 HP:0000426
38 coronal craniosynostosis 33 HP:0004440
39 low anterior hairline 33 HP:0000294
40 posteriorly rotated ears 33 HP:0000358
41 barrel-shaped chest 33 HP:0001552
42 short chin 33 HP:0000331
43 lambdoidal craniosynostosis 33 HP:0004443

Symptoms via clinical synopsis from OMIM:

58
Head And Neck Ears:
low-set ears
posteriorly rotated ears

Head And Neck Eyes:
ptosis
strabismus
epicanthal folds
downslanting palpebral fissure

Chest Ribs Sternum Clavicles And Scapulae:
pectus carinatum
short sternum

Head And Neck Face:
long philtrum
small chin

Skin Nails Hair Hair:
low posterior hairline
low anterior hairline
sparse hair
multiple hair whorls

Chest External Features:
barrel-shaped chest

Head And Neck Teeth:
enamel hypoplasia

Skeletal Skull:
craniosynostosis (lambdoid and coronal sutures)

Skeletal Spine:
abnormally-shaped vertebrae

Head And Neck Neck:
short neck
excess nuchal skin
neck webs

Genitourinary External Genitalia Male:
inguinal hernia
bifid scrotum
micropenis
perineal hypospadias

Abdomen External Features:
umbilical hernia
diastasis recti

Genitourinary Internal Genitalia Male:
cryptorchidism

Chest Breasts:
hypoplastic nipples
widely spaced nipples

Skin Nails Hair Skin:
cutis laxa

Neurologic Central Nervous System:
mental retardation, mild to moderate

Head And Neck Nose:
high, broad nasal root

Clinical features from OMIM:

312830

Drugs & Therapeutics for Scarf Syndrome

Search Clinical Trials , NIH Clinical Center for Scarf Syndrome

Genetic Tests for Scarf Syndrome

Anatomical Context for Scarf Syndrome

MalaCards organs/tissues related to Scarf Syndrome:

42
Skin, Bone

Publications for Scarf Syndrome

Articles related to Scarf Syndrome:

# Title Authors Year
1
A rare case report: SCARF syndrome. ( 25356252 )
2014
2
Variants of the long scarf syndrome. ( 1807150 )
1991
3
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). ( 2596519 )
1989
4
The long scarf syndrome--a potentially fatal and preventable hazard. Report of 11 cases. ( 5068630 )
1972
5
"The long-scarf syndrome"--a new health hazard. ( 5546247 )
1971

Variations for Scarf Syndrome

Expression for Scarf Syndrome

Search GEO for disease gene expression data for Scarf Syndrome.

Pathways for Scarf Syndrome

GO Terms for Scarf Syndrome

Sources for Scarf Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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