MCID: ACR037
MIFTS: 26

Acromegaloid Facial Appearance Syndrome

Categories: Rare diseases, Oral diseases, Fetal diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

MalaCards integrated aliases for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 53 49 55 69
Thick Lips and Oral Mucosa 53 49
Afa Syndrome 53 49

Characteristics:

Orphanet epidemiological data:

55
acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

53
Inheritance:
autosomal dominant


HPO:

31
acromegaloid facial appearance syndrome:
Inheritance autosomal dominant inheritance


Classifications:



External Ids:

OMIM 53 102150
Orphanet 55 ORPHA965
MESH via Orphanet 42 C535655
UMLS via Orphanet 70 C0796280
ICD10 via Orphanet 33 Q87.0
MedGen 39 C0796280
UMLS 69 C0796280

Summaries for Acromegaloid Facial Appearance Syndrome

NIH Rare Diseases : 49 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. Last updated: 11/1/2014

MalaCards based summary : Acromegaloid Facial Appearance Syndrome, also known as thick lips and oral mucosa, is related to acromegaloid hypertrichosis syndrome and antiphospholipid syndrome, and has symptoms including seizures, hypertelorism and macroglossia. 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 phenotype is muscle.

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:

53
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:

55 31 (show all 29)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizures 55 31 occasional (7.5%) Occasional (29-5%) HP:0001250
2 hypertelorism 55 31 hallmark (90%) Very frequent (99-80%) HP:0000316
3 macroglossia 55 31 hallmark (90%) Very frequent (99-80%) HP:0000158
4 gingival overgrowth 55 31 hallmark (90%) Very frequent (99-80%) HP:0000212
5 coarse facial features 55 31 hallmark (90%) Very frequent (99-80%) HP:0000280
6 craniofacial hyperostosis 55 31 frequent (33%) Frequent (79-30%) HP:0004493
7 thick eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0000574
8 intellectual disability, mild 55 31 occasional (7.5%) Frequent (79-30%) HP:0001256
9 micrognathia 55 31 frequent (33%) Frequent (79-30%) HP:0000347
10 thick lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000179
11 thick nasal alae 55 31 hallmark (90%) Very frequent (99-80%) HP:0009928
12 joint hyperflexibility 55 31 hallmark (90%) Very frequent (99-80%) HP:0005692
13 everted lower lip vermilion 55 31 hallmark (90%) Very frequent (99-80%) HP:0000232
14 palpebral edema 55 31 hallmark (90%) Very frequent (99-80%) HP:0100540
15 abnormality of the metacarpal bones 55 31 frequent (33%) Frequent (79-30%) HP:0001163
16 bulbous nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0000414
17 thickened skin 55 31 frequent (33%) Frequent (79-30%) HP:0001072
18 blepharophimosis 55 31 hallmark (90%) Very frequent (99-80%) HP:0000581
19 highly arched eyebrow 55 31 frequent (33%) Frequent (79-30%) HP:0002553
20 synophrys 55 31 frequent (33%) Frequent (79-30%) HP:0000664
21 long nose 55 31 hallmark (90%) Very frequent (99-80%) HP:0003189
22 large hands 55 31 hallmark (90%) Very frequent (99-80%) HP:0001176
23 tapered finger 55 31 occasional (7.5%) Occasional (29-5%) HP:0001182
24 sloping forehead 55 31 frequent (33%) Frequent (79-30%) HP:0000340
25 specific learning disability 31 occasional (7.5%) HP:0001328
26 abnormality of the mouth 31 HP:0000153
27 large for gestational age 31 HP:0001520
28 abnormality of the lip 55 Very frequent (99-80%)
29 abnormality of the tongue 55 Very frequent (99-80%)

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

43
# 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:

38
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
16 ExPASy
18 FMA
27 GO
28 GTR
29 HGMD
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 MedGen
41 MeSH
42 MESH via Orphanet
43 MGI
45 NCI
46 NCIt
47 NDF-RT
50 NINDS
51 Novoseek
53 OMIM
54 OMIM via Orphanet
58 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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