MCID: ACR037
MIFTS: 24

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 54 50 56 69
Thick Lips and Oral Mucosa 50
Afa Syndrome 50

Characteristics:

Orphanet epidemiological data:

56
acromegaloid facial appearance syndrome
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal;

OMIM:

54
Inheritance:
autosomal dominant


HPO:

32
acromegaloid facial appearance syndrome:
Inheritance autosomal dominant inheritance


Classifications:



Summaries for Acromegaloid Facial Appearance Syndrome

NIH Rare Diseases : 50 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 ameloonychohypohidrotic syndrome, and has symptoms including macroglossia, bulbous nose and seizures. 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:

id Related Disease Score Top Affiliating Genes
1 acromegaloid hypertrichosis syndrome 11.3
2 ameloonychohypohidrotic syndrome 9.5 ABCC9 TBX15

Symptoms & Phenotypes for Acromegaloid Facial Appearance Syndrome

Symptoms via clinical synopsis from OMIM:

54

Head And Neck- Nose:
bulbous nose

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

Growth- Weight:
increased birth weight

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

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

Skin Nails & Hair- Skin:
doughy skin

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


Clinical features from OMIM:

102150

Human phenotypes related to Acromegaloid Facial Appearance Syndrome:

56 32 (show all 29)
id Description HPO Frequency Orphanet Frequency HPO Source Accession
1 macroglossia 56 32 hallmark (90%) Very frequent (99-80%) HP:0000158
2 bulbous nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0000414
3 seizures 56 32 occasional (7.5%) Occasional (29-5%) HP:0001250
4 micrognathia 56 32 frequent (33%) Frequent (79-30%) HP:0000347
5 coarse facial features 56 32 hallmark (90%) Very frequent (99-80%) HP:0000280
6 hypertelorism 56 32 hallmark (90%) Very frequent (99-80%) HP:0000316
7 sloping forehead 56 32 frequent (33%) Frequent (79-30%) HP:0000340
8 intellectual disability, mild 56 32 occasional (7.5%) Frequent (79-30%) HP:0001256
9 long nose 56 32 hallmark (90%) Very frequent (99-80%) HP:0003189
10 synophrys 56 32 frequent (33%) Frequent (79-30%) HP:0000664
11 thick nasal alae 56 32 hallmark (90%) Very frequent (99-80%) HP:0009928
12 joint hyperflexibility 56 32 hallmark (90%) Very frequent (99-80%) HP:0005692
13 blepharophimosis 56 32 hallmark (90%) Very frequent (99-80%) HP:0000581
14 large hands 56 32 hallmark (90%) Very frequent (99-80%) HP:0001176
15 thick lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000179
16 thickened skin 56 32 frequent (33%) Frequent (79-30%) HP:0001072
17 gingival overgrowth 56 32 hallmark (90%) Very frequent (99-80%) HP:0000212
18 everted lower lip vermilion 56 32 hallmark (90%) Very frequent (99-80%) HP:0000232
19 craniofacial hyperostosis 56 32 frequent (33%) Frequent (79-30%) HP:0004493
20 palpebral edema 56 32 hallmark (90%) Very frequent (99-80%) HP:0100540
21 thick eyebrow 56 32 frequent (33%) Frequent (79-30%) HP:0000574
22 abnormality of the metacarpal bones 56 32 frequent (33%) Frequent (79-30%) HP:0001163
23 highly arched eyebrow 56 32 frequent (33%) Frequent (79-30%) HP:0002553
24 tapered finger 56 32 occasional (7.5%) Occasional (29-5%) HP:0001182
25 large for gestational age 32 HP:0001520
26 abnormality of the mouth 32 HP:0000153
27 specific learning disability 32 occasional (7.5%) HP:0001328
28 abnormality of the lip 56 Very frequent (99-80%)
29 abnormality of the tongue 56 Very frequent (99-80%)

MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

44
id 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:

39
Skin, Bone, Tongue

Publications for Acromegaloid Facial Appearance Syndrome

Articles related to Acromegaloid Facial Appearance Syndrome:

id 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
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 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 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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