MCID: ACR037
MIFTS: 25

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 58 54 60 74
Thick Lips and Oral Mucosa 58 54
Afa Syndrome 58 54

Characteristics:

Orphanet epidemiological data:

60
acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

58
Inheritance:
autosomal dominant


HPO:

33
acromegaloid facial appearance syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 58 102150
MESH via Orphanet 46 C535655
ICD10 via Orphanet 35 Q87.0
UMLS via Orphanet 75 C0796280
Orphanet 60 ORPHA965
MedGen 43 C0796280
UMLS 74 C0796280

Summaries for Acromegaloid Facial Appearance Syndrome

NIH Rare Diseases : 54 The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs.Orpha Number: 965Disease definitionAcromegaloid facial appearance (AFA) syndrome is a multiple congenital anomalies/dysmorphic syndrome (see this term) 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 (see these terms).Visit the Orphanet disease page for more resources.

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 skin, bone and tongue, and related phenotypes are hypertelorism and macroglossia

Description 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 11.6
2 antiphospholipid syndrome 11.4
3 ankyloblepharon filiforme adnatum and cleft palate 10.2

Symptoms & Phenotypes for Acromegaloid Facial Appearance Syndrome

Human phenotypes related to Acromegaloid Facial Appearance Syndrome:

60 33 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 60 33 hallmark (90%) Very frequent (99-80%) HP:0000316
2 macroglossia 60 33 hallmark (90%) Very frequent (99-80%) HP:0000158
3 gingival overgrowth 60 33 hallmark (90%) Very frequent (99-80%) HP:0000212
4 coarse facial features 60 33 hallmark (90%) Very frequent (99-80%) HP:0000280
5 thick lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000179
6 thick nasal alae 60 33 hallmark (90%) Very frequent (99-80%) HP:0009928
7 joint hyperflexibility 60 33 hallmark (90%) Very frequent (99-80%) HP:0005692
8 everted lower lip vermilion 60 33 hallmark (90%) Very frequent (99-80%) HP:0000232
9 palpebral edema 60 33 hallmark (90%) Very frequent (99-80%) HP:0100540
10 bulbous nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0000414
11 blepharophimosis 60 33 hallmark (90%) Very frequent (99-80%) HP:0000581
12 long nose 60 33 hallmark (90%) Very frequent (99-80%) HP:0003189
13 large hands 60 33 hallmark (90%) Very frequent (99-80%) HP:0001176
14 craniofacial hyperostosis 60 33 frequent (33%) Frequent (79-30%) HP:0004493
15 thick eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0000574
16 intellectual disability, mild 60 33 occasional (7.5%) Frequent (79-30%) HP:0001256
17 micrognathia 60 33 frequent (33%) Frequent (79-30%) HP:0000347
18 abnormality of the metacarpal bones 60 33 frequent (33%) Frequent (79-30%) HP:0001163
19 thickened skin 60 33 frequent (33%) Frequent (79-30%) HP:0001072
20 highly arched eyebrow 60 33 frequent (33%) Frequent (79-30%) HP:0002553
21 synophrys 60 33 frequent (33%) Frequent (79-30%) HP:0000664
22 sloping forehead 60 33 frequent (33%) Frequent (79-30%) HP:0000340
23 seizures 60 33 occasional (7.5%) Occasional (29-5%) HP:0001250
24 tapered finger 60 33 occasional (7.5%) Occasional (29-5%) HP:0001182
25 specific learning disability 33 occasional (7.5%) HP:0001328
26 abnormality of the mouth 33 HP:0000153
27 large for gestational age 33 HP:0001520
28 abnormality of the lip 60 Very frequent (99-80%)
29 abnormality of the tongue 60 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM:

58
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

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

47
# 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:

42
Skin, Bone, Tongue

Publications for Acromegaloid Facial Appearance Syndrome

Articles related to Acromegaloid Facial Appearance Syndrome:

# Title Authors Year
1
Acromegaloid facial appearance syndrome: a further case report. ( 15365463 )
2004
2
A new case of the acromegaloid facial appearance syndrome? ( 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
20 FMA
29 GO
30 GTR
31 HGMD
32 HMDB
33 HPO
34 ICD10
35 ICD10 via Orphanet
36 ICD9CM
37 IUPHAR
38 KEGG
39 LifeMap
41 LOVD
43 MedGen
45 MeSH
46 MESH via Orphanet
47 MGI
50 NCI
51 NCIt
52 NDF-RT
55 NINDS
56 Novoseek
58 OMIM
59 OMIM via Orphanet
63 PubMed
65 QIAGEN
70 SNOMED-CT via HPO
71 SNOMED-CT via Orphanet
72 TGDB
73 Tocris
74 UMLS
75 UMLS via Orphanet
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