MCID: FCD002
MIFTS: 21

Faciodigitogenital Syndrome, Autosomal Recessive

Categories: Fetal diseases, Rare diseases, Reproductive diseases
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Aliases & Classifications for Faciodigitogenital Syndrome, Autosomal Recessive

MalaCards integrated aliases for Faciodigitogenital Syndrome, Autosomal Recessive:

Name: Faciodigitogenital Syndrome, Autosomal Recessive 57
Aarskog-Like Syndrome 57 58
Autosomal Recessive Faciodigitogenital Syndrome 58
Facio-Digito-Genital Syndrome, Kuwait Type 58
Kuwait-Type Faciodigitogenital Syndrome 57
Faciodigitogenital Syndrome, Recessive 71
Teebi-Naguib-Alawadi Syndrome 58

Characteristics:


Inheritance:

Faciodigitogenital Syndrome, Autosomal Recessive: Autosomal recessive 57
Autosomal Recessive Faciodigitogenital Syndrome: Autosomal recessive 58

Prevelance:

Autosomal Recessive Faciodigitogenital Syndrome: <1/1000000 (Worldwide) 58

Age Of Onset:

Autosomal Recessive Faciodigitogenital Syndrome: Neonatal 58

Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


Summaries for Faciodigitogenital Syndrome, Autosomal Recessive

Orphanet: 58 A very rare syndrome including short stature, facial dysmorphism, hand abnormalities and shawl scrotum.

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 high palate and hypertelorism

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 10.2

Symptoms & Phenotypes for Faciodigitogenital Syndrome, Autosomal Recessive

Human phenotypes related to Faciodigitogenital Syndrome, Autosomal Recessive:

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

Symptoms via clinical synopsis from OMIM®:

57 (Updated 24-Oct-2022)
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 (Updated 24-Oct-2022)

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

Organs/tissues related to Faciodigitogenital Syndrome, Autosomal Recessive:

MalaCards : Skin

Publications for Faciodigitogenital Syndrome, Autosomal Recessive

Articles related to Faciodigitogenital Syndrome, Autosomal Recessive:

# Title Authors PMID Year
1
Kuwait type faciodigitogenital syndrome. 62 57
1770541 1991
2
New autosomal recessive faciodigitogenital syndrome. 62 57
3398008 1988
3
Familial syndrome resembling Aarskog syndrome. 57
20607856 2010
4
Aarskog syndrome in a Brazilian boy born to consanguineous parents. 62
1642267 1992

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

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 24-Oct-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
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