Acroosteolysis-keloid-like Lesions-premature Aging Syndrome

Description

Acroosteolysis-keloid-like lesions-premature aging syndrome is a rare, genetic, progeroid syndrome disorder characterized by a prematurely aged appearance (including lipoatrophy, thin, translucent skin, sparse, thin hair, and skeletal muscle atrophy), delayed tooth eruption, keloid-like lesions on pressure regions, and skeletal abnormalities including marked acroosteolysis, brachydactyly with small hands and feet, kyphoscoliosis, osteopenia, and progressive joint contractures in the fingers and toes. Craniofacial features include a thin calvarium, delayed closure of the anterior fontanel, flat occiput, shallow orbits, malar hypoplasia and narrow nose.

Clinical Features

Top most frequent phenotypes and symptoms related to Acroosteolysis-keloid-like Lesions-premature Aging Syndrome

  • Hearing impairment
  • Scoliosis
  • Hypertelorism
  • Micrognathia
  • Sensorineural hearing impairment
  • Flexion contracture
  • Brachydactyly
  • Respiratory insufficiency
  • Edema
  • Microphthalmia

And another 39 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

Acroosteolysis-keloid-like Lesions-premature Aging Syndrome Is also known as premature aging syndrome, penttinen type.

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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Acroosteolysis-keloid-like Lesions-premature Aging Syndrome Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Dystonia Exome Panel.

By Genetic Services Laboratory University of Chicago (United States).

BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH , (...)

View the complete list with 150 more genes
Specificity
1 %
Genes
100 %
PDGFRB. Complete sequencing.

By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain).

PDGFRB
Specificity
100 %
Genes
100 %
Myeloproliferative disorder with eosinophilia (sequence analysis of PDGFRB gene).

By CGC Genetics (Portugal).

PDGFRB
Specificity
100 %
Genes
100 %
RT-PCR t(5;12) (TEL/PDGFRb).

By CGC Genetics (Portugal).

ETV6, PDGFRB
Specificity
50 %
Genes
100 %
Basal ganglia calcification, idiopathic 1 (sequence anaysis of PDGFRB gene).

By CGC Genetics (Portugal).

PDGFRB
Specificity
100 %
Genes
100 %
Detection by FISH of PDGFRB (5q32) rearrangements.

By CGC Genetics (Portugal).

PDGFRB
Specificity
100 %
Genes
100 %
Infantile myofibromatosis 1 (sequence analysis of PDGFRB gene).

By CGC Genetics (Portugal).

PDGFRB
Specificity
100 %
Genes
100 %
Idiopathic Basal Ganglia Calcification Sequencing Panel with CNV Detection.

By PreventionGenetics PreventionGenetics (United States).

SLC20A2, XPR1, PDGFB, PDGFRB
Specificity
25 %
Genes
100 %

We have 39 more panels available in our App

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Sources and references

You can check the following sources for additional information.

ORPHANET OMIM MESH Rare Disease Search Engine

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