MCID: ACR037
MIFTS: 24

Acromegaloid Facial Appearance Syndrome

Categories: Fetal diseases, Oral diseases, Rare diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

MalaCards integrated aliases for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 57 20 58 70
Thick Lips and Oral Mucosa 57 20
Afa Syndrome 57 20

Characteristics:

Orphanet epidemiological data:

58
acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
acromegaloid facial appearance syndrome:
Inheritance autosomal dominant inheritance


Classifications:

Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

OMIM® 57 102150
MESH via Orphanet 45 C535655
ICD10 via Orphanet 33 Q87.0
UMLS via Orphanet 71 C0796280
Orphanet 58 ORPHA965
MedGen 41 C0796280
UMLS 70 C0796280

Summaries for Acromegaloid Facial Appearance Syndrome

GARD : 20 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 965 Definition A rare multiple congenital anomalies/dysmorphic syndrome with a probable autosomal dominant inheritance, characterized by a progressively coarse acromegaloid-like facial appearance with thickening of the lips and intraoral mucosa, large and doughy hands and, in some cases, developmental delay. AFA syndrome appears to be part of a phenotypic spectrum that includes hypertrichotic osteochondrodysplasia, Cantu type and hypertrichosis-acromegaloid facial appearance syndrome.

MalaCards based summary : Acromegaloid Facial Appearance Syndrome, also known as thick lips and oral mucosa, is related to acromegaloid hypertrichosis syndrome and antiphospholipid syndrome. An important gene associated with Acromegaloid Facial Appearance Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include tongue, and related phenotypes are macroglossia and coarse facial features

More information from OMIM: 102150

Related Diseases for Acromegaloid Facial Appearance Syndrome

Diseases related to Acromegaloid Facial Appearance Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

# Related Disease Score Top Affiliating Genes
1 acromegaloid hypertrichosis syndrome 11.5
2 antiphospholipid syndrome 11.4
3 hemopericardium 9.9
4 pericardial effusion 9.9
5 brachydactyly 9.5 TBX15 ABCC9

Graphical network of the top 20 diseases related to Acromegaloid Facial Appearance Syndrome:



Diseases related to Acromegaloid Facial Appearance Syndrome

Symptoms & Phenotypes for Acromegaloid Facial Appearance Syndrome

Human phenotypes related to Acromegaloid Facial Appearance Syndrome:

58 31 (show all 30)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 58 31 hallmark (90%) Very frequent (99-80%) HP:0000158
2 coarse facial features 58 31 hallmark (90%) Very frequent (99-80%) HP:0000280
3 gingival overgrowth 58 31 hallmark (90%) Very frequent (99-80%) HP:0000212
4 hypertelorism 58 31 hallmark (90%) Very frequent (99-80%) HP:0000316
5 thick lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000179
6 thick nasal alae 58 31 hallmark (90%) Very frequent (99-80%) HP:0009928
7 everted lower lip vermilion 58 31 hallmark (90%) Very frequent (99-80%) HP:0000232
8 palpebral edema 58 31 hallmark (90%) Very frequent (99-80%) HP:0100540
9 joint hyperflexibility 58 31 hallmark (90%) Very frequent (99-80%) HP:0005692
10 bulbous nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0000414
11 blepharophimosis 58 31 hallmark (90%) Very frequent (99-80%) HP:0000581
12 large hands 58 31 hallmark (90%) Very frequent (99-80%) HP:0001176
13 long nose 58 31 hallmark (90%) Very frequent (99-80%) HP:0003189
14 craniofacial hyperostosis 58 31 frequent (33%) Frequent (79-30%) HP:0004493
15 thick eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0000574
16 intellectual disability, mild 58 31 occasional (7.5%) Frequent (79-30%) HP:0001256
17 micrognathia 58 31 frequent (33%) Frequent (79-30%) HP:0000347
18 highly arched eyebrow 58 31 frequent (33%) Frequent (79-30%) HP:0002553
19 abnormality of the metacarpal bones 58 31 frequent (33%) Frequent (79-30%) HP:0001163
20 synophrys 58 31 frequent (33%) Frequent (79-30%) HP:0000664
21 thickened skin 58 31 frequent (33%) Frequent (79-30%) HP:0001072
22 sloping forehead 58 31 frequent (33%) Frequent (79-30%) HP:0000340
23 tapered finger 58 31 occasional (7.5%) Occasional (29-5%) HP:0001182
24 specific learning disability 31 occasional (7.5%) HP:0001328
25 seizure 31 occasional (7.5%) HP:0001250
26 seizures 58 Occasional (29-5%)
27 abnormality of the mouth 31 HP:0000153
28 abnormal lip morphology 58 Very frequent (99-80%)
29 abnormality of the tongue 58 Very frequent (99-80%)
30 large for gestational age 31 HP:0001520

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Nose:
bulbous nose

Growth Weight:
increased birth weight

Skeletal Hands:
large doughy hands
tapered fingers (in some patients)

Neurologic Central Nervous System:
mental retardation, mild (in some patients)
learning difficulties (in some patients)

Head And Neck Eyes:
blepharophimosis
thickened upper eyelids
high-arched eyebrows

Head And Neck Mouth:
thickened lips, progressive
intraoral mucosal overgrowth
exaggerated oral rugae and frenula

Skin Nails Hair Skin:
doughy skin

Clinical features from OMIM®:

102150 (Updated 20-May-2021)

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 8.62 ABCC9 TBX15

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

Search Clinical Trials , NIH Clinical Center for Acromegaloid Facial Appearance Syndrome

Genetic Tests for Acromegaloid Facial Appearance Syndrome

Anatomical Context for Acromegaloid Facial Appearance Syndrome

MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

40
Tongue

Publications for Acromegaloid Facial Appearance Syndrome

Articles related to Acromegaloid Facial Appearance Syndrome:

# Title Authors PMID Year
1
Acromegaloid facial appearance syndrome: a further case report. 57 61
15365463 2004
2
Acromegaloid facial appearance (AFA) syndrome: report of a second family. 57
1619638 1992
3
An autosomal dominant syndrome with 'acromegaloid' features and thickened oral mucosa. 57
3989825 1985
4
Acromegaloid facial appearance and hypertrichosis: a case suggesting autosomal recessive inheritance. 61
15127769 2004
5
[Acromegaloid facial appearance syndrome]. 61
11462367 2001
6
Cloning, mapping, and expression analysis of TBX15, a new member of the T-Box gene family. 61
9693034 1998
7
A new case of the acromegaloid facial appearance syndrome? 61
9546838 1998

Variations for Acromegaloid Facial Appearance Syndrome

Expression for Acromegaloid Facial Appearance Syndrome

Search GEO for disease gene expression data for Acromegaloid Facial Appearance Syndrome.

Pathways for Acromegaloid Facial Appearance Syndrome

GO Terms for Acromegaloid Facial Appearance Syndrome

Sources for Acromegaloid Facial Appearance Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
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
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
Content
Loading form....