MCID: ACR037
MIFTS: 25

Acromegaloid Facial Appearance Syndrome

Categories: Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

MalaCards integrated aliases for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 57 53 59 73
Thick Lips and Oral Mucosa 57 53
Afa Syndrome 57 53

Characteristics:

Orphanet epidemiological data:

59
acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

57
Inheritance:
autosomal dominant


HPO:

32
acromegaloid facial appearance syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 57 102150
Orphanet 59 ORPHA965
MESH via Orphanet 45 C535655
UMLS via Orphanet 74 C0796280
ICD10 via Orphanet 34 Q87.0
MedGen 42 C0796280
UMLS 73 C0796280

Summaries for Acromegaloid Facial Appearance Syndrome

NIH Rare Diseases : 53 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 seizures

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 11.4
2 antiphospholipid syndrome 11.2

Symptoms & Phenotypes for Acromegaloid Facial Appearance Syndrome

Symptoms via clinical synopsis from OMIM:

57
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

Human phenotypes related to Acromegaloid Facial Appearance Syndrome:

59 32 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 hypertelorism 59 32 hallmark (90%) Very frequent (99-80%) HP:0000316
2 seizures 59 32 occasional (7.5%) Occasional (29-5%) HP:0001250
3 macroglossia 59 32 hallmark (90%) Very frequent (99-80%) HP:0000158
4 gingival overgrowth 59 32 hallmark (90%) Very frequent (99-80%) HP:0000212
5 coarse facial features 59 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 craniofacial hyperostosis 59 32 frequent (33%) Frequent (79-30%) HP:0004493
7 thick eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0000574
8 intellectual disability, mild 59 32 occasional (7.5%) Frequent (79-30%) HP:0001256
9 micrognathia 59 32 frequent (33%) Frequent (79-30%) HP:0000347
10 thick lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000179
11 thick nasal alae 59 32 hallmark (90%) Very frequent (99-80%) HP:0009928
12 joint hyperflexibility 59 32 hallmark (90%) Very frequent (99-80%) HP:0005692
13 everted lower lip vermilion 59 32 hallmark (90%) Very frequent (99-80%) HP:0000232
14 palpebral edema 59 32 hallmark (90%) Very frequent (99-80%) HP:0100540
15 abnormality of the metacarpal bones 59 32 frequent (33%) Frequent (79-30%) HP:0001163
16 bulbous nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0000414
17 thickened skin 59 32 frequent (33%) Frequent (79-30%) HP:0001072
18 blepharophimosis 59 32 hallmark (90%) Very frequent (99-80%) HP:0000581
19 highly arched eyebrow 59 32 frequent (33%) Frequent (79-30%) HP:0002553
20 synophrys 59 32 frequent (33%) Frequent (79-30%) HP:0000664
21 long nose 59 32 hallmark (90%) Very frequent (99-80%) HP:0003189
22 large hands 59 32 hallmark (90%) Very frequent (99-80%) HP:0001176
23 tapered finger 59 32 occasional (7.5%) Occasional (29-5%) HP:0001182
24 sloping forehead 59 32 frequent (33%) Frequent (79-30%) HP:0000340
25 specific learning disability 32 occasional (7.5%) HP:0001328
26 abnormality of the mouth 32 HP:0000153
27 large for gestational age 32 HP:0001520
28 abnormality of the lip 59 Very frequent (99-80%)
29 abnormality of the tongue 59 Very frequent (99-80%)

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:

41
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 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
Content
Loading form....