Skeletal Overgrowth-craniofacial Dysmorphism-hyperelastic Skin-white Matter Lesions Syndrome

Description

Kosaki overgrowth syndrome is characterized by a facial gestalt involving prominent forehead, proptosis, downslanting palpebral fissures, wide nasal bridge, thin upper lip, and pointed chin. Affected individuals are tall, with an elongated lower segment, hands, and feet. Skin is hyperelastic and fragile, and there is progressive neurologic deterioration with white matter lesions on brain imaging (Takenouchi et al., 2015).

Clinical Features

Top most frequent phenotypes and symptoms related to Skeletal Overgrowth-craniofacial Dysmorphism-hyperelastic Skin-white Matter Lesions Syndrome

  • Scoliosis
  • Neoplasm
  • Ptosis
  • Depressed nasal bridge
  • Wide nasal bridge
  • Downslanted palpebral fissures
  • Depressivity
  • Prominent forehead
  • Proptosis
  • Thin upper lip vermilion

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

Click here to know more about Mendelian.

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

Skeletal Overgrowth-craniofacial Dysmorphism-hyperelastic Skin-white Matter Lesions Syndrome Is also known as skeletal overgrowth with facial dysmorphism, hyperelastic skin, white matter lesions, and neurologic deterioration, kosaki overgrowth syndrome.

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.


Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Skeletal Overgrowth-craniofacial Dysmorphism-hyperelastic Skin-white Matter Lesions 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

Get the app

Sources and references

You can check the following sources for additional information.

OMIM ORPHANET Rare Disease Search Engine

If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like MUCOPOLYSACCHARIDOSIS, TYPE IIID; MPS3D CHARCOT-MARIE-TOOTH DISEASE, AXONAL, TYPE 2T; CMT2T HEMOGLOBIN E-BETA-THALASSEMIA SYNDROME PALMOPLANTAR KERATODERMA, NAGASHIMA TYPE; PPKN AUTOIMMUNE LYMPHOPROLIFERATIVE SYNDROME, TYPE V; ALPS5 COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 14; COXPD14

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more