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 57
Aarskog-Like Syndrome 57 59
Autosomal Recessive Faciodigitogenital Syndrome 59
Facio-Digito-Genital Syndrome, Kuwait Type 59
Kuwait Type Faciodigitogenital Syndrome 57
Faciodigitogenital Syndrome, Recessive 73
Teebi-Naguib-Alawadi Syndrome 59

Characteristics:

Orphanet epidemiological data:

59
autosomal recessive faciodigitogenital syndrome
Inheritance: Autosomal recessive; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
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 aarskog-like syndrome. Affiliated tissues include skin, and related phenotypes are hypertelorism and frontal bossing

Description from OMIM: 227330

Related Diseases for Faciodigitogenital Syndrome, Autosomal Recessive

Symptoms & Phenotypes for Faciodigitogenital Syndrome, Autosomal Recessive

Symptoms via clinical synopsis from OMIM:

57
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 Ribs Sternum Clavicles And Scapulae:
pectus excavatum
absent 12th rib (rare)

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

GenitourinaryInternal GenitaliaMale:
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:

59 32 (show top 50) (show all 53)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 frontal bossing 59 32 frequent (33%) Frequent (79-30%) HP:0002007
3 finger syndactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0006101
4 high palate 59 32 hallmark (90%) Very frequent (99-80%) HP:0000218
5 open bite 59 32 frequent (33%) Frequent (79-30%) HP:0010807
6 short nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003196
7 anteverted nares 59 32 hallmark (90%) Very frequent (99-80%) HP:0000463
8 coarse hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0002208
9 short stature 59 32 frequent (33%) Frequent (79-30%) HP:0004322
10 brachycephaly 59 32 frequent (33%) Frequent (79-30%) HP:0000248
11 long philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000343
12 micrognathia 59 32 occasional (7.5%) Occasional (29-5%) HP:0000347
13 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
14 short foot 59 32 frequent (33%) Frequent (79-30%) HP:0001773
15 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
16 prominent nasal bridge 59 32 frequent (33%) Frequent (79-30%) HP:0000426
17 telecanthus 59 32 hallmark (90%) Very frequent (99-80%) HP:0000506
18 hypopigmentation of hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0005599
19 wide mouth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000154
20 clinodactyly of the 5th finger 59 32 hallmark (90%) Very frequent (99-80%) HP:0004209
21 upslanted palpebral fissure 59 32 occasional (7.5%) Occasional (29-5%) HP:0000582
22 brachydactyly 59 32 hallmark (90%) Very frequent (99-80%) HP:0001156
23 overfolded helix 59 32 frequent (33%) Frequent (79-30%) HP:0000396
24 long face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000276
25 deep philtrum 59 32 hallmark (90%) Very frequent (99-80%) HP:0002002
26 down-sloping shoulders 59 32 hallmark (90%) Very frequent (99-80%) HP:0200021
27 long palpebral fissure 59 32 hallmark (90%) Very frequent (99-80%) HP:0000637
28 triangular face 59 32 hallmark (90%) Very frequent (99-80%) HP:0000325
29 hyperextensible skin 59 32 occasional (7.5%) Occasional (29-5%) HP:0000974
30 shawl scrotum 59 32 hallmark (90%) Very frequent (99-80%) HP:0000049
31 posteriorly rotated ears 59 32 hallmark (90%) Very frequent (99-80%) HP:0000358
32 widow's peak 59 32 occasional (7.5%) Occasional (29-5%) HP:0000349
33 long neck 59 32 hallmark (90%) Very frequent (99-80%) HP:0000472
34 dry hair 59 32 occasional (7.5%) Occasional (29-5%) HP:0011359
35 pectus excavatum 32 HP:0000767
36 intellectual disability 32 occasional (7.5%) HP:0001249
37 inguinal hernia 32 HP:0000023
38 narrow palate 32 HP:0000189
39 hearing impairment 32 occasional (7.5%) HP:0000365
40 dental malocclusion 32 HP:0000689
41 microtia 32 HP:0008551
42 cryptorchidism 32 HP:0000028
43 metatarsus adductus 32 HP:0001840
44 downslanted palpebral fissures 32 HP:0000494
45 vertebral fusion 32 occasional (7.5%) HP:0002948
46 trismus 32 occasional (7.5%) HP:0000211
47 pollakisuria 32 occasional (7.5%) HP:0100515
48 broad palm 32 HP:0001169
49 camptodactyly 32 HP:0012385
50 syndactyly 32 HP:0001159

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:

41
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
17 ExPASy
19 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 LOVD
42 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
54 NINDS
55 Novoseek
57 OMIM
58 OMIM via Orphanet
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 SNOMED-CT via Orphanet
71 TGDB
72 Tocris
73 UMLS
74 UMLS via Orphanet
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