Acromegaloid Facial Appearance Syndrome

Description

Acromegaloid 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).

Clinical Features

Top most frequent phenotypes and symptoms related to Acromegaloid Facial Appearance Syndrome

  • Seizures
  • Hypertelorism
  • Micrognathia
  • Intellectual disability, mild
  • Coarse facial features
  • Blepharophimosis
  • Synophrys
  • Joint hyperflexibility
  • Bulbous nose
  • Thick eyebrow

And another 16 symptoms. If you need more information about this disease we can help you.

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Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
No data available about the known clinical features onset.

Alternative names

Acromegaloid Facial Appearance Syndrome Is also known as afa syndrome, thick lips and oral mucosa.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.


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Acromegaloid Facial Appearance Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Brugada Syndrome Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

SCN1B, SCN2B, SCN5A, CACNA1C, CACNB2, SLMAP, HCN4, TRPM4, SCN3B, GPD1L, ABCC9, KCND3, KCNE3, KCNH2, KCNJ8, PKP2
Specificity
7 %
Genes
100 %
Comprehensive Cardiac Panel.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States).

RIT1, RYR2, SCN1B, SCN2B, SCN4B, SCN5A, SGCD, SLC22A5, BRAF, SNTA1, SOS1, TAZ, TCAP, TGFB3, TNNC1, TNNI3, TNNT2, TPM1, TRDN, TTN , (...)

View the complete list with 86 more genes
Specificity
1 %
Genes
100 %
Dilated cardiomyopathy - full panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Dilated cardiomyopathy - familial variant analysis.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ACTN2, CSRP3, CTF1, RBM20, DES, NEXN, EMD, ABCC9, LAMP2 , (...)

View the complete list with 5 more genes
Specificity
4 %
Genes
100 %
Pan-cardiomyopathy panel.

By CHEO Genetics Diagnostic Laboratory Children's Hospital of Eastern Ontario (Canada).

RYR2, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, MYOZ2, ACTC1, CASQ2, CAV3, LDB3, ANKRD1, MYLK2, ACTN2, CRYAB , (...)

View the complete list with 25 more genes
Specificity
3 %
Genes
100 %
Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

RYR2, SCN1B, SCN4B, SCN5A, SCO2, SGCD, SKI, BRAF, SNTA1, SOS1, SURF1, TAZ, TCAP, TGFB2, TGFB3, TGFBR1, TGFBR2, TMPO, TNNC1, TNNI3 , (...)

View the complete list with 92 more genes
Specificity
1 %
Genes
100 %
Dilated Cardiomyopathy Panel.

By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States).

SCN5A, SGCD, TAZ, TCAP, TMPO, TNNC1, TNNI3, TNNT2, TPM1, TTN, TTR, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, TXNRD2, PDLIM3, MYPN , (...)

View the complete list with 24 more genes
Specificity
3 %
Genes
100 %
Dilated Cardiomyopathy Panel (30 genes).

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center (United States).

SCN5A, SGCD, TAZ, TCAP, TNNC1, TNNI3, TNNT2, TPM1, TTN, VCL, ACTC1, LDB3, ANKRD1, ACTN2, NEBL, MYPN, CRYAB, CSRP3, RBM20, DES , (...)

View the complete list with 10 more genes
Specificity
4 %
Genes
100 %

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Sources and references

You can check the following sources for additional information.

ORPHANET Rare Disease Search Engine

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