1. Mendelian
  2. Rare Diseases
  3. SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE; SMDK

Spondylometaphyseal Dysplasia, Kozlowski Type

Table of contents:

Description

Spondylometaphyseal dysplasia, Kozlowski type is characterized by short stature (short-trunk dwarfism), scoliosis, metaphyseal abnormalities in the femur (prominent in the femoral neck and trochanteric area), coxa vara and generalized platyspondyly.

Genes related to Spondylometaphyseal Dysplasia, Kozlowski Type

  • TRPV4

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Spondylometaphyseal Dysplasia, Kozlowski Type

  • Short stature
  • Scoliosis
  • Growth delay
  • Depressed nasal bridge
  • Brachydactyly
  • Gait disturbance
  • Short neck
  • Kyphosis
  • Delayed skeletal maturation
  • High forehead

And another 33 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

Spondylometaphyseal Dysplasia, Kozlowski Type Is also known as smd, kozlowski 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.

Spondylometaphyseal Dysplasia, Kozlowski Type Recommended genes panels

Panel Name, Specifity and genes Tested/covered
CMT Advanced Evaluation - Dominant.

By Athena Diagnostics Inc (United States).

YARS, LITAF, MFN2, TRPV4, DNM2, HSPB8, EGR2, GARS, HSPB1, MPZ, NEFL, PMP22, RAB7A
Specificity
8 %
Genes
100 %
CMT Advanced Evaluation - Dominant, Axonal.

By Athena Diagnostics Inc (United States).

YARS, MFN2, TRPV4, DNM2, HSPB8, GARS, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Comprehensive.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, MFN2, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MPZ, MTMR2, NDRG1 , (...)

View the complete list with 3 more genes
Specificity
5 %
Genes
100 %
CMT Advanced Evaluation - Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, MFN2, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, MPZ, NEFL, RAB7A
Specificity
8 %
Genes
100 %
TRPV4 DNA Sequencing Test.

By Athena Diagnostics Inc (United States).

TRPV4
Specificity
100 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent.

By Athena Diagnostics Inc (United States).

YARS, PRX, GDAP1, LITAF, FIG4, TRPV4, FGD4, SBF2, SH3TC2, DNM2, HSPB8, EGR2, GARS, GJB1, HSPB1, LMNA, MTMR2, NDRG1, NEFL, PMP22 , (...)

View the complete list with 1 more genes
Specificity
5 %
Genes
100 %
Atypical Spinal Muscular Atrophy Advanced Sequencing Evaluation.

By Athena Diagnostics Inc (United States).

UBA1, VRK1, BICD2, TRPV4, DYNC1H1, HSPB8, GARS, HSPB1, HSPB3, IGHMBP2
Specificity
10 %
Genes
100 %
CMT Advanced Evaluation - Nonprevalent Axonal.

By Athena Diagnostics Inc (United States).

YARS, GDAP1, TRPV4, DNM2, HSPB8, GARS, GJB1, HSPB1, LMNA, NEFL, RAB7A
Specificity
10 %
Genes
100 %

You can get up to 155 more panels with our dedicated tool

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Sources and references

You can check the following sources for additional information.

OMIM MESH ORPHANET Rare Disease Symptoms Checker

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