MCID: FCD002
MIFTS: 18

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 54
Autosomal Recessive Faciodigitogenital Syndrome 56
Facio-Digito-Genital Syndrome, Kuwait Type 56
Faciodigitogenital Syndrome, Recessive 69
Teebi-Naguib-Alawadi Syndrome 56
Aarskog-Like Syndrome 56

Characteristics:

Orphanet epidemiological data:

56
autosomal recessive faciodigitogenital syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal recessive


HPO:

32
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 autosomal recessive faciodigitogenital syndrome, and has symptoms including short stature, wide mouth and long face. 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:

54

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

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

Genitourinary- External Genitalia Male:
shawl scrotum
inguinal hernia

Skeletal- Hands:
fifth finger clinodactyly
camptodactyly
mild syndactyly
hyperextensible hand joints
interdigital webbing
more
Skin Nails & Hair- Hair:
widow's peak
coarse, dry scalp hair
hypopigmented scalp hair

Head And Neck- Teeth:
malocclusion
abnormal teeth

Head And Neck- Head:
brachycephaly

Growth- Height:
short stature, proportionate

Head And Neck- Neck:
long neck

Skeletal- Spine:
vertebral fusion (rare)

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

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

Genitourinary- Internal Genitalia Male:
cryptorchidism

Skeletal- Feet:
small feet
metatarsus varus
bulbous toes

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

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

Head And Neck- Face:
triangular face
long, deep philtrum

Chest- External Features:
sloping shoulders

Genitourinary- Bladder:
frequent urination (rare)


Clinical features from OMIM:

227330

Human phenotypes related to Faciodigitogenital Syndrome, Autosomal Recessive:

56 32 (show top 50) (show all 53)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 short stature 56 32 frequent (33%) Frequent (79-30%) HP:0004322
2 wide mouth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000154
3 long face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000276
4 micrognathia 56 32 occasional (7.5%) Occasional (29-5%) HP:0000347
5 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
6 frontal bossing 56 32 frequent (33%) Frequent (79-30%) HP:0002007
7 posteriorly rotated ears 56 32 hallmark (90%) Very frequent (99-80%) HP:0000358
8 short nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003196
9 anteverted nares 56 32 hallmark (90%) Very frequent (99-80%) HP:0000463
10 shawl scrotum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000049
11 telecanthus 56 32 hallmark (90%) Very frequent (99-80%) HP:0000506
12 long philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0000343
13 widow's peak 56 32 occasional (7.5%) Occasional (29-5%) HP:0000349
14 deep philtrum 56 32 hallmark (90%) Very frequent (99-80%) HP:0002002
15 finger syndactyly 56 32 hallmark (90%) Very frequent (99-80%) HP:0006101
16 brachycephaly 56 32 frequent (33%) Frequent (79-30%) HP:0000248
17 triangular face 56 32 hallmark (90%) Very frequent (99-80%) HP:0000325
18 coarse hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0002208
19 high palate 56 32 hallmark (90%) Very frequent (99-80%) HP:0000218
20 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
21 prominent nasal bridge 56 32 frequent (33%) Frequent (79-30%) HP:0000426
22 dry hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0011359
23 hyperextensible skin 56 32 occasional (7.5%) Occasional (29-5%) HP:0000974
24 open bite 56 32 frequent (33%) Frequent (79-30%) HP:0010807
25 long neck 56 32 hallmark (90%) Very frequent (99-80%) HP:0000472
26 everted lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000232
27 overfolded helix 56 32 frequent (33%) Frequent (79-30%) HP:0000396
28 long palpebral fissure 56 32 hallmark (90%) Very frequent (99-80%) HP:0000637
29 down-sloping shoulders 56 32 hallmark (90%) Very frequent (99-80%) HP:0200021
30 short foot 56 32 frequent (33%) Frequent (79-30%) HP:0001773
31 hypopigmentation of hair 56 32 occasional (7.5%) Occasional (29-5%) HP:0005599
32 clinodactyly of the 5th finger 56 32 hallmark (90%) Very frequent (99-80%) HP:0004209
33 upslanted palpebral fissure 56 32 occasional (7.5%) Occasional (29-5%) HP:0000582
34 brachydactyly 32 hallmark (90%) HP:0001156
35 narrow palate 32 HP:0000189
36 cryptorchidism 32 HP:0000028
37 camptodactyly 32 HP:0012385
38 inguinal hernia 32 HP:0000023
39 intellectual disability 32 occasional (7.5%) HP:0001249
40 pectus excavatum 32 HP:0000767
41 trismus 32 occasional (7.5%) HP:0000211
42 syndactyly 32 HP:0001159
43 downslanted palpebral fissures 32 HP:0000494
44 dental malocclusion 32 HP:0000689
45 metatarsus adductus 32 HP:0001840
46 microtia 32 HP:0008551
47 hearing impairment 32 occasional (7.5%) HP:0000365
48 vertebral fusion 32 occasional (7.5%) HP:0002948
49 hyperextensible hand joints 32 HP:0005639
50 proportionate short stature 32 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:

39
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
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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