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

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

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).

Genes related to Skeletal Overgrowth-craniofacial Dysmorphism-hyperelastic Skin-white Matter Lesions Syndrome

PDGFRB

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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.

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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

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.

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 Panel complete gene list BCS1L, SCN8A, SCP2, SDHA, SGCE, SLC16A2, SLC20A2, SLC2A1, SLC6A3, SLC6A8, SPR, SQSTM1, STXBP1, SUCLA2, SUOX, SURF1, SYNJ1, TAF1, TBCD, TH, TIMM8A, NKX2-1, TPI1, TREX1, XK, XPR1, VPS35, FBXO7, ANO3, HTRA2, NPC2, PINK1, MICU1, DNAJC6, CBS, LRPPRC, BSCL2, KMT2B, PANK2, NDUFAF5, SAMHD1, APTX, DNAJC5, SLC19A3, PARK7, BCAP31, MCEE, COQ8A, MLC1, TPK1, ACY1, ARX, RNASEH2A, MMAA, IFIH1, VPS13A, MMAB, MECR, AARS, L2HGDH, TPP1, CLN3, CLN5, CLN6, TUBB4A, CLN8, THAP1, SLC39A14, AARS2, HACE1, SERAC1, FA2H, PDHX, COL4A1, ADAR, COX10, COX15, CP, UBA5, ADCY5, NDUFA12, RNASEH2C, TACO1, CSF1R, MMADHC, CTSD, CTSF, SLC30A10, C19orf12, VAC14, RNASEH2B, KCTD17, DCAF17, TTC19, CYP27A1, HEPACAM, FOXRED1, COX20, DDC, NDUFAF2, MFSD8, NDUFAF6, DNAJC12, WDR45, DLAT, TBC1D24, EARS2, TOR1AIP1, LIPT1, UQCRQ, COASY, ATP13A2, PRRT2, CLPB, TOR1A, AFG3L2, ECHS1, SDHAF1, FOXG1, FTL, FUCA1, GAMT, GCDH, GCH1, GLB1, GM2A, GNAL, GNAO1, GNB1, ALS2, GRN, HEXA, HIVEP2, HPCA, HPRT1, MDH2, MECP2, ARSA, MMUT, NDUFA10, NDUFA2, NDUFA9, NDUFS1, NDUFS2, NDUFS3, NDUFS4, NDUFS7, NDUFS8, NDUFV1, NPC1, ATM, ATP1A2, ATP1A3, NUP62, PRKN, ATP7B, PDGFB, PDGFRB, PDHA1, AUH, PLA2G6, PLP1, PNKD, PNKP, POLG, PPT1, PRKRA, PSEN1, PTS, QDPR 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 %

You can get up to 39 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

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