MCID: ACR037
MIFTS: 22

Acromegaloid Facial Appearance Syndrome malady

Categories: Rare diseases, Fetal diseases, Oral diseases

Aliases & Classifications for Acromegaloid Facial Appearance Syndrome

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Sources:
45NIH Rare Diseases, 51Orphanet, 65UMLS, 28ICD10 via Orphanet, 37MESH via Orphanet, 66UMLS via Orphanet, 61The Human Phenotype Ontology
See all MalaCards sources

Aliases & Descriptions for Acromegaloid Facial Appearance Syndrome:

Name: Acromegaloid Facial Appearance Syndrome 45 51 65
Thick Lips and Oral Mucosa 45
 
Afa Syndrome 45

Characteristics:

Orphanet epidemiological data:

51
acromegaloid facial appearance syndrome:
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide); Age of onset: Neonatal


Classifications:



External Ids:

Orphanet51 965
ICD10 via Orphanet28 Q87.0
MESH via Orphanet37 C535655
UMLS via Orphanet66 C0796280
UMLS65 C0796280

Summaries for Acromegaloid Facial Appearance Syndrome

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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 palpebral edema, abnormal nasal morphology and joint hypermobility. An important gene associated with Acromegaloid Facial Appearance Syndrome is ABCC9 (ATP Binding Cassette Subfamily C Member 9). Affiliated tissues include skin, tongue and bone, and related mouse phenotype muscle.

Related Diseases for Acromegaloid Facial Appearance Syndrome

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

idRelated DiseaseScoreTop Affiliating Genes
1acromegaloid hypertrichosis syndrome31.4ABCC9, TBX15
2antiphospholipid syndrome11.2

Symptoms for Acromegaloid Facial Appearance Syndrome

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Symptoms:

 51 (show all 25)
  • coarse face
  • hypertelorism
  • blepharophimosis/short palpebral fissures
  • puffy eyelids
  • long/large/bulbous nose
  • flared/thick ala nasi
  • thick lips
  • protruding lips
  • macroglossia/tongue protrusion/proeminent/hypertrophic
  • hamartoma/tumefaction of the tongue/gingivae/oral mucosa
  • thickened/hypertrophic/fibromatous gingivae
  • large hand
  • hyperextensible joints/articular hyperlaxity
  • autosomal dominant inheritance
  • dense/thickened skull/calvarium/cranial/facial hyperostosis
  • sloping forehead
  • micrognathia/retrognathia/micrognathism/retrognathism
  • thick/bushy eyebrows
  • synophris/synophrys
  • high arched eyebrows
  • metacarpal anomalies/archibald's sign
  • thick skin/pachydermia/orange skin
  • intellectual deficit/mental/psychomotor retardation/learning disability
  • tapered fingers
  • seizures/epilepsy/absences/spasms/status epilepticus

HPO human phenotypes related to Acromegaloid Facial Appearance Syndrome:

(show all 32)
id Description Frequency HPO Source Accession
1 palpebral edema hallmark (90%) HP:0100540
2 abnormal nasal morphology hallmark (90%) HP:0005105
3 joint hypermobility hallmark (90%) HP:0001382
4 large hands hallmark (90%) HP:0001176
5 blepharophimosis hallmark (90%) HP:0000581
6 abnormality of the nasal alae hallmark (90%) HP:0000429
7 hypertelorism hallmark (90%) HP:0000316
8 coarse facial features hallmark (90%) HP:0000280
9 everted lower lip vermilion hallmark (90%) HP:0000232
10 gingival overgrowth hallmark (90%) HP:0000212
11 thick lower lip vermilion hallmark (90%) HP:0000179
12 abnormality of the tongue hallmark (90%) HP:0000157
13 cognitive impairment typical (50%) HP:0100543
14 craniofacial hyperostosis typical (50%) HP:0004493
15 highly arched eyebrow typical (50%) HP:0002553
16 abnormality of the metacarpal bones typical (50%) HP:0001163
17 thickened skin typical (50%) HP:0001072
18 synophrys typical (50%) HP:0000664
19 thick eyebrow typical (50%) HP:0000574
20 micrognathia typical (50%) HP:0000347
21 sloping forehead typical (50%) HP:0000340
22 seizures occasional (7.5%) HP:0001250
23 tapered finger occasional (7.5%) HP:0001182
24 highly arched eyebrow HP:0002553
25 large for gestational age HP:0001520
26 specific learning disability HP:0001328
27 intellectual disability, mild HP:0001256
28 tapered finger HP:0001182
29 large hands HP:0001176
30 blepharophimosis HP:0000581
31 bulbous nose HP:0000414
32 abnormality of the mouth HP:0000153

Drugs & Therapeutics for Acromegaloid Facial Appearance Syndrome

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Interventional clinical trials:

Search ClinicalTrials, NIH Clinical Center for Acromegaloid Facial Appearance Syndrome

Genetic Tests for Acromegaloid Facial Appearance Syndrome

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Anatomical Context for Acromegaloid Facial Appearance Syndrome

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MalaCards organs/tissues related to Acromegaloid Facial Appearance Syndrome:

33
Skin, Tongue, Bone

Animal Models for Acromegaloid Facial Appearance Syndrome or affiliated genes

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MGI Mouse Phenotypes related to Acromegaloid Facial Appearance Syndrome:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.1ABCC9, TBX15

Publications for Acromegaloid Facial Appearance Syndrome

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Articles related to Acromegaloid Facial Appearance Syndrome:

idTitleAuthorsYear
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

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Expression for genes affiliated with Acromegaloid Facial Appearance Syndrome

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

Pathways for genes affiliated with Acromegaloid Facial Appearance Syndrome

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GO Terms for genes affiliated with Acromegaloid Facial Appearance Syndrome

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Sources for Acromegaloid Facial Appearance Syndrome

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2CDC
14ExPASy
15FDA
16FMA
24GTR
25HGMD
26HMDB
27ICD10
28ICD10 via Orphanet
29ICD9CM
30IUPHAR
31KEGG
34MedGen
36MeSH
37MESH via Orphanet
38MGI
41NCI
42NCIt
43NDF-RT
46NINDS
47Novoseek
49OMIM
50OMIM via Orphanet
54PubMed
55QIAGEN
60SNOMED-CT via Orphanet
64Tumor Gene Family of Databases
65UMLS
66UMLS via Orphanet