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 53
Aarskog-Like Syndrome 53 55
Autosomal Recessive Faciodigitogenital Syndrome 55
Facio-Digito-Genital Syndrome, Kuwait Type 55
Kuwait Type Faciodigitogenital Syndrome 53
Faciodigitogenital Syndrome, Recessive 69
Teebi-Naguib-Alawadi Syndrome 55

Characteristics:

Orphanet epidemiological data:

55
autosomal recessive faciodigitogenital syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal recessive


HPO:

31
faciodigitogenital syndrome, autosomal recessive:
Inheritance autosomal recessive inheritance


Classifications:



Summaries for Faciodigitogenital Syndrome, Autosomal Recessive

MalaCards based summary : Faciodigitogenital Syndrome, Autosomal Recessive, is also known as aarskog-like syndrome, and has symptoms including hypertelorism, frontal bossing and finger syndactyly. Affiliated tissues include skin.

Description from OMIM: 227330

Related Diseases for Faciodigitogenital Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Faciodigitogenital Syndrome, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

53
Head And Neck Eyes:
hypertelorism
downslanting palpebral fissures
wide palpebral fissures

Genitourinary External Genitalia Male:
inguinal hernia
shawl scrotum

Head And Neck Head:
brachycephaly

Head And Neck Face:
triangular face
long, deep philtrum

Skeletal Hands:
camptodactyly
mild syndactyly
fifth finger clinodactyly
interdigital webbing
small, broad hands
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)

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

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

Genitourinary Internal Genitalia Male:
cryptorchidism

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

Human phenotypes related to Faciodigitogenital Syndrome, Autosomal Recessive:

55 31 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 55 31 frequent (33%) Frequent (79-30%) HP:0002007
3 finger syndactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0006101
4 high palate 55 31 hallmark (90%) Very frequent (99-80%) HP:0000218
5 open bite 55 31 frequent (33%) Frequent (79-30%) HP:0010807
6 short nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003196
7 anteverted nares 55 31 hallmark (90%) Very frequent (99-80%) HP:0000463
8 coarse hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0002208
9 short stature 55 31 frequent (33%) Frequent (79-30%) HP:0004322
10 brachycephaly 55 31 frequent (33%) Frequent (79-30%) HP:0000248
11 long philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000343
12 micrognathia 55 31 occasional (7.5%) Occasional (29-5%) HP:0000347
13 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
14 short foot 55 31 frequent (33%) Frequent (79-30%) HP:0001773
15 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
16 prominent nasal bridge 55 31 frequent (33%) Frequent (79-30%) HP:0000426
17 telecanthus 55 31 hallmark (90%) Very frequent (99-80%) HP:0000506
18 hypopigmentation of hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0005599
19 wide mouth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000154
20 clinodactyly of the 5th finger 55 31 hallmark (90%) Very frequent (99-80%) HP:0004209
21 upslanted palpebral fissure 55 31 occasional (7.5%) Occasional (29-5%) HP:0000582
22 brachydactyly 55 31 hallmark (90%) Very frequent (99-80%) HP:0001156
23 overfolded helix 55 31 frequent (33%) Frequent (79-30%) HP:0000396
24 long face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000276
25 deep philtrum 55 31 hallmark (90%) Very frequent (99-80%) HP:0002002
26 down-sloping shoulders 55 31 hallmark (90%) Very frequent (99-80%) HP:0200021
27 long palpebral fissure 55 31 hallmark (90%) Very frequent (99-80%) HP:0000637
28 triangular face 55 31 hallmark (90%) Very frequent (99-80%) HP:0000325
29 hyperextensible skin 55 31 occasional (7.5%) Occasional (29-5%) HP:0000974
30 shawl scrotum 55 31 hallmark (90%) Very frequent (99-80%) HP:0000049
31 posteriorly rotated ears 55 31 hallmark (90%) Very frequent (99-80%) HP:0000358
32 widow's peak 55 31 occasional (7.5%) Occasional (29-5%) HP:0000349
33 long neck 55 31 hallmark (90%) Very frequent (99-80%) HP:0000472
34 dry hair 55 31 occasional (7.5%) Occasional (29-5%) HP:0011359
35 pectus excavatum 31 HP:0000767
36 intellectual disability 31 occasional (7.5%) HP:0001249
37 inguinal hernia 31 HP:0000023
38 narrow palate 31 HP:0000189
39 hearing impairment 31 occasional (7.5%) HP:0000365
40 dental malocclusion 31 HP:0000689
41 microtia 31 HP:0008551
42 cryptorchidism 31 HP:0000028
43 metatarsus adductus 31 HP:0001840
44 downslanted palpebral fissures 31 HP:0000494
45 vertebral fusion 31 occasional (7.5%) HP:0002948
46 trismus 31 occasional (7.5%) HP:0000211
47 broad palm 31 HP:0001169
48 camptodactyly 31 HP:0012385
49 syndactyly 31 HP:0001159
50 proportionate short stature 31 HP:0003508

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:

38
Skin

Publications for Faciodigitogenital Syndrome, Autosomal Recessive

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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 PubMed
60 QIAGEN
65 SNOMED-CT via HPO
66 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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