MCID: FCD002
MIFTS: 19

Faciodigitogenital Syndrome, Autosomal Recessive

Categories: Fetal diseases, Rare diseases

Aliases & Classifications for Faciodigitogenital Syndrome, Autosomal Recessive

MalaCards integrated aliases for Faciodigitogenital Syndrome, Autosomal Recessive:

Name: Faciodigitogenital Syndrome, Autosomal Recessive 56
Aarskog-Like Syndrome 56 58
Autosomal Recessive Faciodigitogenital Syndrome 58
Facio-Digito-Genital Syndrome, Kuwait Type 58
Kuwait Type Faciodigitogenital Syndrome 56
Faciodigitogenital Syndrome, Recessive 71
Teebi-Naguib-Alawadi Syndrome 58

Characteristics:

Orphanet epidemiological data:

58
autosomal recessive faciodigitogenital syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

56
Inheritance:
autosomal recessive


HPO:

31
faciodigitogenital syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Faciodigitogenital Syndrome, Autosomal Recessive

MalaCards based summary : Faciodigitogenital Syndrome, Autosomal Recessive, also known as aarskog-like syndrome, is related to aarskog-scott syndrome. Affiliated tissues include skin, and related phenotypes are hypertelorism and short nose

More information from OMIM: 227330

Related Diseases for Faciodigitogenital Syndrome, Autosomal Recessive

Diseases related to Faciodigitogenital Syndrome, Autosomal Recessive via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 aarskog-scott syndrome 10.3

Symptoms & Phenotypes for Faciodigitogenital Syndrome, Autosomal Recessive

Human phenotypes related to Faciodigitogenital Syndrome, Autosomal Recessive:

58 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 short nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003196
3 anteverted nares 58 31 hallmark (90%) Very frequent (99-80%) HP:0000463
4 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
5 high palate 58 31 hallmark (90%) Very frequent (99-80%) HP:0000218
6 wide mouth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000154
7 brachydactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0001156
8 clinodactyly of the 5th finger 58 31 hallmark (90%) Very frequent (99-80%) HP:0004209
9 long face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000276
10 long philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000343
11 deep philtrum 58 31 hallmark (90%) Very frequent (99-80%) HP:0002002
12 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
13 telecanthus 58 31 hallmark (90%) Very frequent (99-80%) HP:0000506
14 down-sloping shoulders 58 31 hallmark (90%) Very frequent (99-80%) HP:0200021
15 finger syndactyly 58 31 hallmark (90%) Very frequent (99-80%) HP:0006101
16 triangular face 58 31 hallmark (90%) Very frequent (99-80%) HP:0000325
17 shawl scrotum 58 31 hallmark (90%) Very frequent (99-80%) HP:0000049
18 posteriorly rotated ears 58 31 hallmark (90%) Very frequent (99-80%) HP:0000358
19 long palpebral fissure 58 31 hallmark (90%) Very frequent (99-80%) HP:0000637
20 long neck 58 31 hallmark (90%) Very frequent (99-80%) HP:0000472
21 open bite 58 31 frequent (33%) Frequent (79-30%) HP:0010807
22 short stature 58 31 frequent (33%) Frequent (79-30%) HP:0004322
23 brachycephaly 58 31 frequent (33%) Frequent (79-30%) HP:0000248
24 frontal bossing 58 31 frequent (33%) Frequent (79-30%) HP:0002007
25 overfolded helix 58 31 frequent (33%) Frequent (79-30%) HP:0000396
26 prominent nasal bridge 58 31 frequent (33%) Frequent (79-30%) HP:0000426
27 short foot 58 31 frequent (33%) Frequent (79-30%) HP:0001773
28 coarse hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0002208
29 micrognathia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000347
30 hypopigmentation of hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0005599
31 upslanted palpebral fissure 58 31 occasional (7.5%) Occasional (29-5%) HP:0000582
32 hyperextensible skin 58 31 occasional (7.5%) Occasional (29-5%) HP:0000974
33 widow's peak 58 31 occasional (7.5%) Occasional (29-5%) HP:0000349
34 dry hair 58 31 occasional (7.5%) Occasional (29-5%) HP:0011359
35 hearing impairment 31 occasional (7.5%) HP:0000365
36 intellectual disability 31 occasional (7.5%) HP:0001249
37 trismus 31 occasional (7.5%) HP:0000211
38 vertebral fusion 31 occasional (7.5%) HP:0002948
39 pollakisuria 31 occasional (7.5%) HP:0100515
40 inguinal hernia 31 HP:0000023
41 narrow palate 31 HP:0000189
42 dental malocclusion 31 HP:0000689
43 microtia 31 HP:0008551
44 metatarsus adductus 31 HP:0001840
45 cryptorchidism 31 HP:0000028
46 pectus excavatum 31 HP:0000767
47 downslanted palpebral fissures 31 HP:0000494
48 broad palm 31 HP:0001169
49 camptodactyly 31 HP:0012385
50 proportionate short stature 31 HP:0003508

Symptoms via clinical synopsis from OMIM:

56
Genitourinary External Genitalia Male:
inguinal hernia
shawl scrotum

Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
wide palpebral fissures

Genitourinary Internal Genitalia Male:
cryptorchidism

Head And Neck Face:
triangular face
long, deep philtrum

Skeletal Hands:
camptodactyly
hyperextensible hand joints
mild syndactyly
fifth finger clinodactyly
interdigital webbing
more
Head And Neck Neck:
long neck

Head And Neck Teeth:
malocclusion
abnormal teeth

Chest External Features:
sloping shoulders

Growth Height:
short stature, proportionate

Skeletal Spine:
vertebral fusion (rare)

Head And Neck Mouth:
narrow palate
wide mouth
high-arched palate
pouting lower lip

Head And Neck Head:
brachycephaly

Chest Ribs Sternum Clavicles And Scapulae:
pectus excavatum
absent 12th rib (rare)

Head And Neck Ears:
posteriorly rotated ears
small ears
abnormal auricles
hearing loss (rare)

Skin Nails Hair Hair:
widow's peak
coarse, dry scalp hair
hypopigmented scalp hair

Head And Neck Nose:
anteverted nostrils
high nasal bridge
short, stubby nose

Neurologic Central Nervous System:
normal intelligence
mental retardation (rare)
central facial nerve paralysis (rare)
trismus (rare)

Skeletal Feet:
metatarsus varus
small feet
bulbous toes

Genitourinary Bladder:
frequent urination (rare)

Clinical features from OMIM:

227330

Drugs & Therapeutics for Faciodigitogenital Syndrome, Autosomal Recessive

Search Clinical Trials , NIH Clinical Center for Faciodigitogenital Syndrome, Autosomal Recessive

Genetic Tests for Faciodigitogenital Syndrome, Autosomal Recessive

Anatomical Context for Faciodigitogenital Syndrome, Autosomal Recessive

MalaCards organs/tissues related to Faciodigitogenital Syndrome, Autosomal Recessive:

40
Skin

Publications for Faciodigitogenital Syndrome, Autosomal Recessive

Articles related to Faciodigitogenital Syndrome, Autosomal Recessive:

# Title Authors PMID Year
1
Kuwait type faciodigitogenital syndrome. 56 61
1770541 1991
2
Familial syndrome resembling Aarskog syndrome. 56
20607856 2010
3
New autosomal recessive faciodigitogenital syndrome. 56
3398008 1988

Variations for Faciodigitogenital Syndrome, Autosomal Recessive

Expression for Faciodigitogenital Syndrome, Autosomal Recessive

Search GEO for disease gene expression data for Faciodigitogenital Syndrome, Autosomal Recessive.

Pathways for Faciodigitogenital Syndrome, Autosomal Recessive

GO Terms for Faciodigitogenital Syndrome, Autosomal Recessive

Sources for Faciodigitogenital Syndrome, Autosomal Recessive

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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