MCID: SCR025
MIFTS: 25

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 56 74 52 58 71
Skeletal Abnormalities, Cutis Laxa, Craniostenosis, Ambiguous Genitalia, Retardation, and Facial Abnormalities 56 52

Characteristics:

Orphanet epidemiological data:

58
scarf syndrome
Inheritance: X-linked recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Infancy,Neonatal;

OMIM:

56
Inheritance:
x-linked recessive

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


HPO:

31
scarf syndrome:
Inheritance x-linked recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases
Rare bone diseases
Rare skin diseases
Developmental anomalies during embryogenesis


Summaries for Scarf Syndrome

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 3134 Definition SCARF 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 and cutis laxa. Affiliated tissues include skin and bone, and related phenotypes are short neck and ptosis

Wikipedia : 74 SCARF syndrome is a rare syndrome characterized by skeletal abnormalities, cutis laxa, craniostenosis,... more...

More information 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 10.0
2 cutis laxa 10.0
3 pectus carinatum 10.0
4 inflammatory myopathy with abundant macrophages 10.0

Symptoms & Phenotypes for Scarf Syndrome

Human phenotypes related to Scarf Syndrome:

58 31 (show all 43)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short neck 58 31 frequent (33%) Frequent (79-30%) HP:0000470
2 ptosis 58 31 frequent (33%) Frequent (79-30%) HP:0000508
3 coarse facial features 58 31 frequent (33%) Frequent (79-30%) HP:0000280
4 inguinal hernia 58 31 frequent (33%) Frequent (79-30%) HP:0000023
5 pectus carinatum 58 31 frequent (33%) Frequent (79-30%) HP:0000768
6 umbilical hernia 58 31 frequent (33%) Frequent (79-30%) HP:0001537
7 cryptorchidism 58 31 frequent (33%) Frequent (79-30%) HP:0000028
8 downslanted palpebral fissures 58 31 frequent (33%) Frequent (79-30%) HP:0000494
9 craniosynostosis 58 31 frequent (33%) Frequent (79-30%) HP:0001363
10 intellectual disability, mild 58 31 frequent (33%) Frequent (79-30%) HP:0001256
11 long philtrum 58 31 frequent (33%) Frequent (79-30%) HP:0000343
12 strabismus 58 31 frequent (33%) Frequent (79-30%) HP:0000486
13 joint hyperflexibility 58 31 frequent (33%) Frequent (79-30%) HP:0005692
14 epicanthus 58 31 frequent (33%) Frequent (79-30%) HP:0000286
15 abnormal form of the vertebral bodies 58 31 frequent (33%) Frequent (79-30%) HP:0003312
16 short sternum 58 31 frequent (33%) Frequent (79-30%) HP:0000879
17 wide intermamillary distance 58 31 frequent (33%) Frequent (79-30%) HP:0006610
18 webbed neck 58 31 frequent (33%) Frequent (79-30%) HP:0000465
19 low posterior hairline 58 31 frequent (33%) Frequent (79-30%) HP:0002162
20 micropenis 58 31 frequent (33%) Frequent (79-30%) HP:0000054
21 low-set, posteriorly rotated ears 58 31 frequent (33%) Frequent (79-30%) HP:0000368
22 bifid scrotum 58 31 frequent (33%) Frequent (79-30%) HP:0000048
23 sparse hair 58 31 frequent (33%) Frequent (79-30%) HP:0008070
24 diastasis recti 58 31 frequent (33%) Frequent (79-30%) HP:0001540
25 hypocalcification of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0011084
26 perineal hypospadias 58 31 frequent (33%) Frequent (79-30%) HP:0000051
27 wide nasal base 58 31 frequent (33%) Frequent (79-30%) HP:0012810
28 hypoplasia of dental enamel 58 31 frequent (33%) Frequent (79-30%) HP:0006297
29 cutis laxa 58 31 frequent (33%) Frequent (79-30%) HP:0000973
30 hepatocellular adenoma 58 31 frequent (33%) Frequent (79-30%) HP:0012028
31 intellectual disability, moderate 58 31 occasional (7.5%) Occasional (29-5%) HP:0002342
32 hypoplastic nipples 58 31 occasional (7.5%) Occasional (29-5%) HP:0002557
33 low-set ears 31 HP:0000369
34 intellectual disability 31 HP:0001249
35 wide nasal bridge 31 HP:0000431
36 thickened nuchal skin fold 31 HP:0000474
37 prominent nasal bridge 31 HP:0000426
38 coronal craniosynostosis 31 HP:0004440
39 short chin 31 HP:0000331
40 posteriorly rotated ears 31 HP:0000358
41 low anterior hairline 31 HP:0000294
42 barrel-shaped chest 31 HP:0001552
43 lambdoidal craniosynostosis 31 HP:0004443

Symptoms via clinical synopsis from OMIM:

56
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

Genitourinary Internal Genitalia Male:
cryptorchidism

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
micropenis
bifid scrotum
perineal hypospadias

Abdomen External Features:
umbilical hernia
diastasis recti

Head And Neck Face:
long philtrum
small chin

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:

40
Skin, Bone

Publications for Scarf Syndrome

Articles related to Scarf Syndrome:

# Title Authors PMID Year
1
Ambiguous genitalia associated with skeletal abnormalities, cutis laxa, craniostenosis, psychomotor retardation, and facial abnormalities (SCARF syndrome). 61 56
2596519 1989
2
[Isadora Duncan syndrome : Lethal strangulation injuries caused by filling equipment]. 61
27142365 2016
3
A rare case report: SCARF syndrome. 61
25356252 2014
4
Variants of the long scarf syndrome. 61
1807150 1991
5
The long scarf syndrome--a potentially fatal and preventable hazard. Report of 11 cases. 61
5068630 1972
6
"The long-scarf syndrome"--a new health hazard. 61
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
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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